Características moleculares, funciones y mutaciones de los Colágenos tipo I, III y V, de la Tenascina XB, y de la Proteína Similar a la Carboxipeptidasa Aórtica (ACLP), en la matriz extracelular: la relación fenotipo-genotipo en el Síndrome de Ehlers-Danlos Clásico, similar al clásico y vascular. Una Revisión de alcance

ilustraciones, diagramas

Autores:
Rodríguez Hernández, Andrea Esperanza
Tipo de recurso:
Fecha de publicación:
2023
Institución:
Universidad Nacional de Colombia
Repositorio:
Universidad Nacional de Colombia
Idioma:
spa
OAI Identifier:
oai:repositorio.unal.edu.co:unal/84500
Acceso en línea:
https://repositorio.unal.edu.co/handle/unal/84500
https://repositorio.unal.edu.co/
Palabra clave:
610 - Medicina y salud::611 - Anatomía humana, citología, histología
610 - Medicina y salud::616 - Enfermedades
610 - Medicina y salud::618 - Ginecología, obstetricia, pediatría, geriatría
570 - Biología::576 - Genética y evolución
GENOTIPOS
Genotypes
FENOTIPOS
Phenotype
SINDROME DE EHLERS-DANLOS
Ehlers-Danlos syndrome
Collagen Type V
Collagen Type III
Collagen Type I
Ehlers-Danlos Syndrome
tenascin-X deficiency
AEBP1 protein
Colágeno Tipo I
Colágeno Tipo III
Colágeno Tipo V
Síndrome de Ehlers-Danlos
Tenascina XB
Proteína del gen AEBP1
Rights
openAccess
License
Atribución-NoComercial-SinDerivadas 4.0 Internacional
id UNACIONAL2_5de3aaacd4f228d3104332ffd8882711
oai_identifier_str oai:repositorio.unal.edu.co:unal/84500
network_acronym_str UNACIONAL2
network_name_str Universidad Nacional de Colombia
repository_id_str
dc.title.spa.fl_str_mv Características moleculares, funciones y mutaciones de los Colágenos tipo I, III y V, de la Tenascina XB, y de la Proteína Similar a la Carboxipeptidasa Aórtica (ACLP), en la matriz extracelular: la relación fenotipo-genotipo en el Síndrome de Ehlers-Danlos Clásico, similar al clásico y vascular. Una Revisión de alcance
dc.title.translated.eng.fl_str_mv Molecular characteristics, functions and mutations of type I, III and V Collagens, Tenascin XB, and Aortic Carboxypeptidase-like Protein (ACLP) in the extracellular matrix: the phenotype-genotype relationship in Classical Ehlers-Danlos Syndrome, Classical-like Ehlers-Danlos Syndrome and Vascular Ehlers-Danlos Syndrome. A scoping review
title Características moleculares, funciones y mutaciones de los Colágenos tipo I, III y V, de la Tenascina XB, y de la Proteína Similar a la Carboxipeptidasa Aórtica (ACLP), en la matriz extracelular: la relación fenotipo-genotipo en el Síndrome de Ehlers-Danlos Clásico, similar al clásico y vascular. Una Revisión de alcance
spellingShingle Características moleculares, funciones y mutaciones de los Colágenos tipo I, III y V, de la Tenascina XB, y de la Proteína Similar a la Carboxipeptidasa Aórtica (ACLP), en la matriz extracelular: la relación fenotipo-genotipo en el Síndrome de Ehlers-Danlos Clásico, similar al clásico y vascular. Una Revisión de alcance
610 - Medicina y salud::611 - Anatomía humana, citología, histología
610 - Medicina y salud::616 - Enfermedades
610 - Medicina y salud::618 - Ginecología, obstetricia, pediatría, geriatría
570 - Biología::576 - Genética y evolución
GENOTIPOS
Genotypes
FENOTIPOS
Phenotype
SINDROME DE EHLERS-DANLOS
Ehlers-Danlos syndrome
Collagen Type V
Collagen Type III
Collagen Type I
Ehlers-Danlos Syndrome
tenascin-X deficiency
AEBP1 protein
Colágeno Tipo I
Colágeno Tipo III
Colágeno Tipo V
Síndrome de Ehlers-Danlos
Tenascina XB
Proteína del gen AEBP1
title_short Características moleculares, funciones y mutaciones de los Colágenos tipo I, III y V, de la Tenascina XB, y de la Proteína Similar a la Carboxipeptidasa Aórtica (ACLP), en la matriz extracelular: la relación fenotipo-genotipo en el Síndrome de Ehlers-Danlos Clásico, similar al clásico y vascular. Una Revisión de alcance
title_full Características moleculares, funciones y mutaciones de los Colágenos tipo I, III y V, de la Tenascina XB, y de la Proteína Similar a la Carboxipeptidasa Aórtica (ACLP), en la matriz extracelular: la relación fenotipo-genotipo en el Síndrome de Ehlers-Danlos Clásico, similar al clásico y vascular. Una Revisión de alcance
title_fullStr Características moleculares, funciones y mutaciones de los Colágenos tipo I, III y V, de la Tenascina XB, y de la Proteína Similar a la Carboxipeptidasa Aórtica (ACLP), en la matriz extracelular: la relación fenotipo-genotipo en el Síndrome de Ehlers-Danlos Clásico, similar al clásico y vascular. Una Revisión de alcance
title_full_unstemmed Características moleculares, funciones y mutaciones de los Colágenos tipo I, III y V, de la Tenascina XB, y de la Proteína Similar a la Carboxipeptidasa Aórtica (ACLP), en la matriz extracelular: la relación fenotipo-genotipo en el Síndrome de Ehlers-Danlos Clásico, similar al clásico y vascular. Una Revisión de alcance
title_sort Características moleculares, funciones y mutaciones de los Colágenos tipo I, III y V, de la Tenascina XB, y de la Proteína Similar a la Carboxipeptidasa Aórtica (ACLP), en la matriz extracelular: la relación fenotipo-genotipo en el Síndrome de Ehlers-Danlos Clásico, similar al clásico y vascular. Una Revisión de alcance
dc.creator.fl_str_mv Rodríguez Hernández, Andrea Esperanza
dc.contributor.advisor.none.fl_str_mv García Cardona, Ananías
Garavito Rodríguez, Édgar
dc.contributor.author.none.fl_str_mv Rodríguez Hernández, Andrea Esperanza
dc.contributor.researchgroup.spa.fl_str_mv Evaluacion de Tecnologias y Politicas en Salud
dc.contributor.orcid.spa.fl_str_mv ANDREA ESPERANZA RODRíGUEZ HERNÁNDEZ [0000000322868516]
dc.subject.ddc.spa.fl_str_mv 610 - Medicina y salud::611 - Anatomía humana, citología, histología
610 - Medicina y salud::616 - Enfermedades
610 - Medicina y salud::618 - Ginecología, obstetricia, pediatría, geriatría
570 - Biología::576 - Genética y evolución
topic 610 - Medicina y salud::611 - Anatomía humana, citología, histología
610 - Medicina y salud::616 - Enfermedades
610 - Medicina y salud::618 - Ginecología, obstetricia, pediatría, geriatría
570 - Biología::576 - Genética y evolución
GENOTIPOS
Genotypes
FENOTIPOS
Phenotype
SINDROME DE EHLERS-DANLOS
Ehlers-Danlos syndrome
Collagen Type V
Collagen Type III
Collagen Type I
Ehlers-Danlos Syndrome
tenascin-X deficiency
AEBP1 protein
Colágeno Tipo I
Colágeno Tipo III
Colágeno Tipo V
Síndrome de Ehlers-Danlos
Tenascina XB
Proteína del gen AEBP1
dc.subject.lemb.none.fl_str_mv GENOTIPOS
Genotypes
FENOTIPOS
Phenotype
SINDROME DE EHLERS-DANLOS
Ehlers-Danlos syndrome
dc.subject.proposal.eng.fl_str_mv Collagen Type V
Collagen Type III
Collagen Type I
Ehlers-Danlos Syndrome
tenascin-X deficiency
AEBP1 protein
dc.subject.proposal.spa.fl_str_mv Colágeno Tipo I
Colágeno Tipo III
Colágeno Tipo V
Síndrome de Ehlers-Danlos
Tenascina XB
Proteína del gen AEBP1
description ilustraciones, diagramas
publishDate 2023
dc.date.accessioned.none.fl_str_mv 2023-08-08T20:53:19Z
dc.date.available.none.fl_str_mv 2023-08-08T20:53:19Z
dc.date.issued.none.fl_str_mv 2023
dc.type.spa.fl_str_mv Trabajo de grado - Maestría
dc.type.driver.spa.fl_str_mv info:eu-repo/semantics/masterThesis
dc.type.version.spa.fl_str_mv info:eu-repo/semantics/acceptedVersion
dc.type.content.spa.fl_str_mv Text
dc.type.redcol.spa.fl_str_mv http://purl.org/redcol/resource_type/TM
status_str acceptedVersion
dc.identifier.uri.none.fl_str_mv https://repositorio.unal.edu.co/handle/unal/84500
dc.identifier.instname.spa.fl_str_mv Universidad Nacional de Colombia
dc.identifier.reponame.spa.fl_str_mv Repositorio Institucional Universidad Nacional de Colombia
dc.identifier.repourl.spa.fl_str_mv https://repositorio.unal.edu.co/
url https://repositorio.unal.edu.co/handle/unal/84500
https://repositorio.unal.edu.co/
identifier_str_mv Universidad Nacional de Colombia
Repositorio Institucional Universidad Nacional de Colombia
dc.language.iso.spa.fl_str_mv spa
language spa
dc.relation.references.spa.fl_str_mv Theocharis AD, Manou D, Karamanos NK. The extracellular matrix as a multitasking player in disease. FEBS J. 2019 Aug 11;286(15):2830–69
Chiarelli N, Ritelli M, Zoppi N, Colombi M. Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes. Genes (Basel). 2019 Aug;10(8)
Thorpe CT, Birch HL, Clegg PD, Screen HRC. The role of the non-collagenous matrix in tendon function. Int J Exp Pathol. 2013 Aug;94(4):248–59
Howard D, Shepherd JH, Kew SJ, Hernandez P, Ghose S, Wardale JA, et al. Release of growth factors from a reinforced collagen GAG matrix supplemented with platelet rich plasma: Influence on cultured human meniscal cells. J Orthop Res. 2014 Feb;32(2):273–8
Taye N, Karoulias SZ, Hubmacher D. The “other” 15-40%: The Role of Non-Collagenous Extracellular Matrix Proteins and Minor Collagens in Tendon. J Orthop Res. 2020 Jan;38(1):23–35
Li L, Mao B, Li S, Xiao J, Wang H, Zhang J, et al. Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. Hum Mutat. 2019 May;40(5):588–600
Wang K, Zhao S, Zhang Q, Yuan J, Liu J, Ding X, et al. Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD). J Hum Genet. 2018 Nov;63(11):1119–28
Halper J, Kjaer M. Basic components of connective tissues and extracellular matrix: elastin, fibrillin, fibulins, fibrinogen, fibronectin, laminin, tenascins and thrombospondins. Adv Exp Med Biol. 2014;802:31–47
Malfait F, De Paepe A. The Ehlers-Danlos syndrome. Adv Exp Med Biol. 2014;802:129–43
De Paepe A, Malfait F. The Ehlers-Danlos syndrome, a disorder with many faces. Clin Genet. 2012 Jul;82(1):1–11
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8–26
Verdure P, Triquenot-Bagan A, Perdu J, Gerardin E, Laquerriere A, Hannequin D, et al. [Multiple cervical arterial dissections in two brothers: fibro-muscular dysplasia or connective tissue disease?]. Rev Neurol (Paris). 2008 Sep;164 Spec N:F211-5
Fuchs JR, Fishman SJ. Management of spontaneous colonic perforation in Ehlers-Danlos syndrome type IV. J Pediatr Surg. 2004 Feb;39(2):e1-3
Brellier F, Tucker RP, Chiquet-Ehrismann R. Tenascins and their implications in diseases and tissue mechanics. Scand J Med Sci Sports. 2009 Aug;19(4):511–9
Zweers MC, Hakim AJ, Grahame R, Schalkwijk J. Joint hypermobility syndromes: the pathophysiologic role of tenascin-X gene defects. Arthritis Rheum. 2004 Sep;50(9):2742–9
Bristow J, Carey W, Egging D, Schalkwijk J. Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2005 Nov;139C(1):24–30
Burk CJ, Aber C, Connelly EA. Ehlers-Danlos syndrome type IV: keloidal plaques of the lower extremities, amniotic band limb deformity, and a new mutation. Vol. 56, Journal of the American Academy of Dermatology. United States; 2007. p. S53-4
Lao Q, Brookner B, Merke DP. High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. J Mol Diagn. 2019 Sep;21(5):924–31
Kawakami K, Matsumoto K ichi. Behavioral alterations in mice lacking the gene for tenascin-x. Biol Pharm Bull. 2011;34(4):590–3
Valcourt U, Alcaraz LB, Exposito JY, Lethias C, Bartholin L. Tenascin-X: beyond the architectural function. Cell Adh Migr. 2015;9(1–2):154–65
Bauer A, de Lucia M, Leuthard F, Jagannathan V, Leeb T. Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. Anim Genet. 2019 Oct;50(5):546–9
Ritelli M, Cinquina V, Venturini M, Pezzaioli L, Formenti AM, Chiarelli N, et al. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome. Genes (Basel). 2019 Feb;10(2)
Syx D, De Wandele I, Symoens S, De Rycke R, Hougrand O, Voermans N, et al. Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome. Hum Mol Genet. 2019 Jun;28(11):1853–64
Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, et al. Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. Am J Hum Genet. 2018 Apr;102(4):696–705
Roche P, Czubryt MP. Transcriptional control of collagen I gene expression. Cardiovasc Hematol Disord Drug Targets. 2014;14(2):107–20
Sorushanova A, Delgado LM, Wu Z, Shologu N, Kshirsagar A, Raghunath R, et al. The Collagen Suprafamily: From Biosynthesis to Advanced Biomaterial Development. 2019;31(1):e1801651
Fujita D. Utilizing Next-Generation Sequencing for the Diagnosis and Clinical Management of Vascular Ehlers-Danlos Syndrome. Vol. 59, International heart journal. Japan; 2018. p. 911–3
Uitto J, Ringpfeil F. Ehlers-Danlos syndrome-molecular genetics beyond the collagens. J Invest Dermatol. 2004 Apr;122(4):xii-xiii
Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum Mutat. 2005 Jan;25(1):28–37
Morissette R, McDonnell NB, Merke DP. Tenascin-X gene defects and cardiovascular disease. Med Hypotheses. 2014 Dec;83(6):844
Zweers MC, van Vlijmen-Willems IM, van Kuppevelt TH, Mecham RP, Steijlen PM, Bristow J, et al. Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol. 2004 Apr;122(4):885–91
Chen W, Perritt AF, Morissette R, Dreiling JL, Bohn MF, Mallappa A, et al. Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia. Hum Mutat. 2016 Sep;37(9):893–7
O’Connell M, Burrows NP, van Vlijmen-Willems MJJ, Clark SM, Schalkwijk J. Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature. Br J Dermatol. 2010 Dec;163(6):1340–5
D’hondt S, Guillemyn B, Syx D, Symoens S, De Rycke R, Vanhoutte L, et al. Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model. Matrix Biol. 2018 Sep;70:72–83
Pickup MJ, Pollanen MS. Traumatic subarachnoid hemorrhage and the COL3A1 gene: emergence of a potential causal link. Forensic Sci Med Pathol. 2011 Jun;7(2):192–7
Perdu J, Boutouyrie P, Lahlou-Laforêt K, Khau Van Kien P, Denarié N, Mousseaux E, et al. [Vascular Ehlers-Danlos syndrome]. Presse Med. 2006 Dec;35(12 Pt 2):1864–75
Nakamura M, Yajima J, Oikawa Y, Ogasawara K, Uejima T, Abe K, et al. Vascular Ehlers-Danlos syndrome--all three coronary artery spontaneous dissections. J Cardiol. 2009 Jun;53(3):458–62
Sadakata R, Hatamochi A, Kodama K, Kaga A, Yamaguchi T, Soma T, et al. Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene. Intern Med. 2010;49(16):1797–800
Sahata T, Tsuda S, Abo M, Sanekata K, Yamagishi T, Aoki Y, et al. [Ehlers-Danlos syndrome with a frequent intestinal perforation]. Nihon Naika Gakkai Zasshi. 2009 Apr;98(4):852–4
Watanabe A, Kosho T, Wada T, Sakai N, Fujimoto M, Fukushima Y, et al. Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan. Circ J. 2007 Feb;71(2):261–5
Mizuno K, Boudko S, Engel J, Bächinger HP. Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding. J Biol Chem. 2013 Jun;288(26):19166–76
Sobrido Prieto M, Rumbo-Prieto JM. The systematic review: Plurality of approaches and methodologies. Enferm Clin. 2018 Nov 1;28(6):387–93
Munn Z, Peters MDJ, Stern C, Tufanaru C, McArthur A, Aromataris E. Systematic review or scoping review? Guidance for authors when choosing between a systematic or scoping review approach. BMC Med Res Methodol. 2018 Nov 19;18(1):143
M. Peters, C. Godfrey, P. McInerney, Z. Munn, AC. Tricco HK. Scoping Reviews (2020 version). In: Aromataris E, Munn Z, editors. JBI Manual for Evidence Synthesis. 4th ed. University of Adelaide, South Australia, Australia: JBI; 2020. p. 407–52
Ministerio de Salud. Resolución número 8430 de 1993: Por la cual se establecen las normas científicas, técnicas y administrativas para la investigación en salud. Colombia: Ministerio de Salud; 1993 p. 1–19
Asociación Médica Mundial. Declaración de Helsinki de la AMM – Principios éticos para las investigaciones médicas en seres humanos. Helsinki, Finlandia; 1964
Tricco AC, Lillie E, Zarin W, O’Brien KK, Colquhoun H, Levac D, et al. PRISMA Extension for Scoping Reviews (PRISMA-ScR): Checklist and Explanation. Ann Intern Med. 2018 Oct;169(7):467–73
Garrido-Cardenas JA, Garcia-Maroto F, Alvarez-Bermejo JA, Manzano-Agugliaro F. DNA Sequencing Sensors: An Overview. Sensors (Basel). 2017 Mar14;17(3)
Zhang J, Chiodini R, Badr A, Zhang G. The impact of next-generation sequencing on genomics. J Genet Genomics. 2011 Mar 20;38(3):95–109
Soto JL, Blanco I, Díez O, García Planells J, Lorda I, Matthijs G, et al. Documento de consenso sobre la implementación de la secuenciación masiva de nueva generación en el diagnóstico genético de la predisposición hereditaria al cáncer. Med Clin (Barc). 2018
Metzker ML. Sequencing technologies — the next generation. Nature Reviews Genetics 2010 11:1. 2009 Dec 8;11(1):31–46
Liu L, Li Y, Li S, Hu N, He Y, Pong R, et al. Comparison of next-generation sequencing systems. J Biomed Biotechnol. 2012;2012
McCombie WR, McPherson JD, Mardis ER. Next-Generation Sequencing Technologies. Cold Spring Harb Perspect Med. 2019 Nov 1;9(11)
Bahassi EM, Stambrook PJ. Next-generation sequencing technologies: breaking the sound barrier of human genetics. Mutagenesis. 2014 Sep;29(5):303–10
Lay-Son RG, León PL. Perspectivas actuales sobre el diagnóstico genómico en pediatría. Rev Chil Pediatr. 2015 Jan 1;86(1):3–11
Calabria I, Pedrola L, Berlanga P, Aparisi MJ, Sánchez-Izquierdo D, Cañete A, et al. The new challenge in oncology: Next-generation sequencing and its application in precision medicine. Anales de Pediatría (English Edition). 2016 Nov 1;85(5):273.e1-273.e7
Meulemeester E De, Malfait F, Syx D. Next-Generation Sequencing for Ehlers-Danlos Syndrome. Ghent University; 2018. Tesis de Maestría, disponible en: https://lib.ugent.be/nl/catalog/rug01:002479732
Hsu RH, Chien YH, Hwu WL, Lee NC. Diversity in heritable disorders of connective tissue at a single center. Connect Tissue Res. 2020;1–6
Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, et al. Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. Genet Med. 2016;18(11):1119–27
Cortini F, Villa C, Marinelli B, Combi R, Pesatori AC, Bassotti A. Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing. Arch Dermatol Res. 2019;311(4):265–75
Kuivaniemi H, Tromp G. Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. Gene. 2019 Jul;707:151–71
De Paepe A. Ehlers-Danlos syndrome type IV. Clinical and molecular aspects and guidelines for diagnosis and management. Dermatology. 1994;189:21–5
De Paepe A, Malfait F. Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. Br J Haematol. 2004 Dec;127(5):491–500
Bowen CJ, Calderón Giadrosic JF, Burger Z, Rykiel G, Davis EC, Helmers MR, et al. Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome. J Clin Invest. 2020 Feb;130(2):686–98
Drera B, Zoppi N, Ritelli M, Tadini G, Venturini M, Wischmeijer A, et al. Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. Vol. 64, Journal of dermatological science. Netherlands; 2011. p. 237–40
Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, et al. Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. Am J Med Genet A. 2017 Sep;173(9):2534–8
Pope FM, Narcisi P, Nicholls AC, Liberman M, Oorthuys JW. Clinical presentations of Ehlers Danlos syndrome type IV. Arch Dis Child. 1988;63(9):1016–25
Byers PH, Belmont J, Black J, de Backer J, Frank M, Jeunemaitre X, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40–7
Beridze N, Frishman WH. Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications. Cardiol Rev. 2012;20(1):4–7
Chaganti P, Chao J. Bent Out of Shape: A Case of Abdominal Pain. 2019;35(12):e245–7
Benrashid E, Ohman JW. Current management of the vascular subtype of Ehlers-Danlos syndrome. Curr Opin Cardiol. 2020 Nov;35(6):603–9
Eagleton MJ. Arterial complications of vascular Ehlers-Danlos syndrome. J Vasc Surg. 2016 Dec;64(6):1869–80
Shalhub S, Neptune E, Sanchez DE, Dua A, Arellano N, McDonnell NB, et al. Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome. Am J Med Genet A. 2019 May;179(5):797–802
Shalhub S, Byers P, Hicks K, Coleman D, Davis F, et al. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis: From the Society for Clinical Vascular Surgery. 2020;71(1):149–57
Lavoie M, Reese J. Asymptomatic bilateral common iliac artery dissections in previously undiagnosed vascular Ehlers-Danlos syndrome. 2019;12(11):e231537
Anderson DW, Thakker-Varia S, Tromp G, Kuivaniemi H, Stolle CA. A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV. Hum Mutat. 1997;9(1):62–3
Abrahamsen BJ, Kulseth MA, Paus B. A 19-year-old man with relapsing bilateral pneumothorax, hemoptysis, and intrapulmonary cavitary lesions diagnosed with vascular Ehlers-Danlos syndrome and a novel missense mutation in COL3A1. Chest. 2015 May;147(5):e166–70
Tromp G, Kuivaniemi H, Shikata H, Prockop DJ. A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV. J Biol Chem. 1989;264(3):1349–52
Inokuchi R, Kurata H, Endo K, Kitsuta Y, Nakajima S, Hatamochi A, et al. Vascular Ehlers-Danlos syndrome without the characteristic facial features: a case report. Medicine. 2014 Dec;93(28):e291
Yoshimura Y, Nishijima C, Ikeda K, Ikeda K, Niida Y, Inaoki M. Vascular-type Ehlers-Danlos syndrome presenting as recurrent compartment syndrome. Eur J Dermatol [Internet]. 2011;21(6):1022–3
Eder J, Laccone F, Rohrbach M, Giunta C, Aumayr K, Reichel C, et al. A new COL3A1 mutation in Ehlers-Danlos syndrome type IV. Vol. 22, Experimental dermatology. Denmark; 2013. p. 231–4
Pope F, Narcisi P, Nicholls A, Germaine D, Pals G, Richards A. COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. 1996;135(2):163–81
Dwivedi A, Hamdallah O, Morris M, Yancey A, Ross C. Varying Presentations in Patients With Symptomatic Type IV Vascular Ehlers-Danlos Syndrome. 2012;46(2):163–6
Mortani Barbosa EJ, Pyeritz RE, Litt H, Desjardins B. Vascular Ehlers-Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections. Am J Med Genet A. 2011 Dec;155A(12):3090–4
Pickup MJ, Pollanen MS. Traumatic subarachnoid hemorrhage and the COL3A1 gene: emergence of a potential causal link. Forensic Sci Med Pathol. 2011 Jun;7(2):192–7
Gilchrist D, Schwarze U, Shields K, MacLaren L, Bridge PJ, Byers PH. Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives. Am J Med Genet. 1999;82(4):305–11
Collins M, Schwarze U, Carpentieri D, Kaplan P, Nathanson K, Meyer J, et al. Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV. 1999;2(1):86–93
Busch A, Hoffjan S, Bergmann F, Hartung B, Jung H, Hanel D, et al. Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low Vitamin D serum concentration. Orphanet J Rare Dis [Internet]. 2016;11(1)
Sentongo T, Lichtenstein G, Nathanson K, Kaplan P, Maller E. Intestinal Perforation in Ehlers-Danlos Syndrome After Enema Treatment for Constipation. 1998;27(5):599–602
Rossi P, Scher L, Friedman S, Hall M, Boxer R, Bialer M. Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos Syndrome. 1998;27(3):549–51
Chuman H, Trobe JD, Petty EM, Schwarze U, Pepin M, Byers PH, et al. Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature. J Neuroophthalmol. 2002 Jun;22(2):75–81
Mackay K, Raghunath M, Superti-Furga A, Steinmann B, Dalgleish R. Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation. 1996;49(6):286–95
Wan T, Ye J, Wu P, Cheng M, Jiang B, Wang H, et al. Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report. BMC Pulm Med. 2020 May;20(1):149
Adham S, Trystram D, Albuisson J, Domigo V, Legrand A, Jeunemaitre X, et al. Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: A retrospective cohort and comprehensive review. Orphanet J Rare Dis [Internet]. 2018;13(1)
Lan NSR, Fietz M, Pachter N, Paul V, Playford D. A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement. Cardiovasc Pathol. 2018;35:48–51
Shalhub S, Byers PH, Hicks KL, Charlton-Ouw K, Zarkowsky D, Coleman DM, et al. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome. J Vasc Surg. 2019 Nov;70(5):1543–54
Aydiner O, Hancer VS. A Novel COL3A1 c.2644G>T; p.(Gly882Cys) Variant in a Turkish Family with Vascular Ehlers-Danlos Syndrome. Mol Syndromol. 2020;11(2):110–4
Ellis RJB, Salehin M, Zhou R, Somauroo M. Type IV Ehlers-Danlos syndrome presenting as recurrent, bilateral carotid dissections. BMJ Case Rep. 2012;2012(101526291)
Morissette R, Schoenhoff F, Xu Z, Shilane DA, Griswold BF, Chen W, et al. Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome. Circ Cardiovasc Genet. 2014 Feb;7(1):80–8
Rana M, Aziz O, Purkayastha S, Lloyd J, Wolfe J, Ziprin P. Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature. J Med Case Rep. 2011;5(101293382):229
Rebelo M, Ramos L, Lima J, Vieira JD, Tavares P, Teixeira L, et al. Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene. Acta Med Port. 2011;24(6):1079–86
Lee ST, Kim JA, Jang SY, Kim DK, Kim JW, Ki CS. A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections. Heart Vessels. 2008;23(2):144–8
Blaker H, Funke B, Hausser I, Hackert T, Schirmacher P, Autschbach F. Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome. Virchows Arch. 2007;450(6):713–7
Demirogullari B, Karabulut R, Demirtola A, Karabulut B, Gol IH, Aybay C, et al. A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations. J Pediatr Surg. 2006 Aug;41(8):e27-30
Nanduri R, Jones E, Miller-Hance W, Lewis A, Morris S. Intraperitoneal bladder rupture in a young child with vascular Ehlers-Danlos syndrome. Am J Med Genet A. 2021 Mar;185(3):841-844
Zemrani B, McLeod E, Rogers E, Lawrence J, Feldman D, Evans V, et al. Vascular Ehlers-Danlos Syndrome: An Unusual Cause of Chronic Intestinal Failure in a Child. 2019;68(1):e14–5
Berezowska S, Christe A, Bartholdi D, Koch M, von Garnier C. Pulmonary Fibrous Nodule with Ossifications May Indicate Vascular Ehlers-Danlos Syndrome with Missense Mutation in COL3A1. Am J Respir Crit Care Med. 2018 Mar;197(5):661–2
Gu G, Yang H, Cui L, Fu Y, Li F, Zhou Z, et al. Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection. Vasc Endovascular Surg. 2018 Feb;52(2):138–42
Deng Y, Wei S, Hu S, Chen J, Tan Z, Yang Y. Ehlers-Danlos syndrome type IV is associated with a novel G984R COL3A1 mutation. Mol Med Rep. 2015 Jul;12(1):1119–24
Batagini N, Gornik H, Kirksey L. Spontaneous Splenic Rupture in Vascular Ehlers-Danlos Syndrome. 2015;49(5):152–4
Baas AF, Spiering W, Moll FL, Page-Christiaens L, Beenakkers ICM, Dooijes D, et al. Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family. Am J Med Genet A. 2017 Feb;173(2):519–23
He F, Wang X, Cai X, Peng H, Zhang L, Zhu T, et al. Novel missense mutation in the COL3A1 gene caused vascular Ehlers-Danlos syndrome in a Chinese family. J Dermatol. 2015 Jan;42(1):95-6
Wheeler S, Russo M, Wilson-Murphy M, Shen W. Gynecologic and Surgical Complications in Type IV Ehlers-Danlos Syndrome. 2014;123(2):431–3
Verbert A, Verbist J, Peeters P, Deferm H, Haenen L. Spontaneous Rupture of an Aneurysm of the Right Subclavian Artery as a First Presentation of Ehlers Danlos Syndrome in a 15-year Old Boy. 2013;2013(5):367–72
Masuno M, Watanabe A, Naing BT, Shimada T, Fujimoto W, Ninomiya S, et al. Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene. Congenit Anom (Kyoto). 2012 Dec;52(4):207–10
Colebatch AN, Shaw EC, Foulds NC, Davidson BKS. Hemorrhagic bullae of the oral mucosa as an early manifestation of vascular-type ehlers-danlos syndrome. J Clin Rheumatol. 2011 Oct;17(7):383–4
Shields L, Rolf C, Davis G, Hunsaker J. Sudden and Unexpected Death in Three Cases of Ehlers-Danlos Syndrome Type IV. 2010;55(6):1641–5
Barboi A, Dennis C, Timins M, Peltier W, Klotz CM, Jaradeh S. Neuromuscular manifestations in a patient with ehlers-danlos syndrome type IV. J Clin Neuromuscul Dis. 2009 Dec;11(2):81–7
Ohkuchi A, Matsubara S, Takahashi K, Inoue S, Saito T, Mitsuhashi T, et al. Ehlers-Danlos type IV in pregnancy with a history of myocardial infarction. J Obstet Gynaecol Res. 2009 Aug;35(4):797-800
Lipinski MJ, Lipinski SE, Kripalani S, Friesen LD, Uthlaut BS, Braddock SR. An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management. Am J Med Genet A. 2009 Feb;149A(4):698–701
Palmeri S, Mari F, Meloni I, Malandrini A, Ariani F, Villanova M, et al. Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism. Clin Genet. 2003 Jun;63(6):510–5
Johnson PH, Richards AJ, Lloyd JC, Pope FM, Hopkinson DA. Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV. Hum Mutat. 1995;6(4):336–42
Kroes HY, Pals G, van Essen AJ. Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. Clin Genet. 2003 Mar;63(3):224–7
McGrory J, Weksberg R, Thorner P, Cole W. Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen. Clin Genet. 1996 Dec;50(6):442-5
Hassan I, Rasmussen TE, Schwarze U, Rose PS, Whiteman DAH, Gloviczki P. Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy. Mayo Clin Proc. 2002 Aug;77(8):861-3
Jansen T, de Paepe A, Nuytinck L, Altmeyer P. Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene. 2001;144(5):1086–7
Nishiyama Y, Nejima J, Watanabe A, Kotani E, Sakai N, Hatamochi A, et al. Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis. J Intern Med. 2001 Jan;249(1):103-8
Sakai K, Toda M, Kyoyama H, Nishimura H, Kojima A, Kuwabara Y, et al. Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation. Intern Med. 2019 Dec;58(23):3441–7
da Rocha de Sousa F, Colucci N, Dupuis A, Toso C, Buchs NC, Abbassi Z. Surgical management of vascular Ehlers-Danlos syndrome and its challenges: a case report. Swiss Med Wkly. 2020;150:w20379
Kakinuma D, Yamada T, Kanazawa Y, Matsuno K, Sahara T, Yoshida H. A case of vascular Ehlers-Danlos syndrome with a ruptured hepatic artery after surgical treatment of peritonitis caused by the perforation of the colon. Surg Case Rep. 2021;7(1):74
McKenna C, Vandersteen A, Wakeling E, Pope FM, Ghali N. Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn. Clin Dysmorphol. 2017 Jan;26(1):50–7
Kamalanathan KC, Barnacle AM, Holbrook C, Rees C. Splenic Rupture Secondary to Vascular Ehlers-Danlos Syndrome Managed by Coil Embolization of the Splenic Artery. European J Pediatr Surg Rep. 2019;7(1):e83–5
Carter J, Fenves AZ. Understanding vascular-type Ehlers-Danlos syndrome and avoiding vascular complications. Proc (Bayl Univ Med Cent). 2017;30(1):52–3
Cortini F, Marinelli B, Seia M, de Giorgio B, Pesatori AC, Montano N, et al. Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report. J Med Case Rep. 2016 Oct;10(1):303
Nakagawa H, Wada H, Hajiro T, Nagao T, Ogawa E, Hatamochi A, et al. Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax. Intern Med. 2015;54(24):3181–4
Makrygiannis G, Loeys B, Defraigne JO, Sakalihasan N. Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome. Eur J Med Genet. 2015 Nov;58(11):634–6
Jorgensen A, Fagerheim T, Rand-Hendriksen S, Lunde PI, Vorren TO, Pepin MG, et al. Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family. Eur J Hum Genet. 2015;23(6):796–802
Geake JB, Ritchey DM, Burke J, Halliday A, Wood-Baker R, Maguire G. Sudden death in a young male with a recent pneumothorax: a case report. Eur Respir Rev. 2014 Mar 1;23(131):145-7
Girardin M, Puzenat E, Humbert P, Aubin F. Bilateral spontaneous carotid-cavernous fistula revealing Ehler-Danlos disease. Ann Dermatol Venereol. 2013 Apr;140(4):296–9
Sa YJ, Kim Y du, Moon SW, Kim CK, Ki CS. Occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case. Surg Today. 2013 Dec;43(12):1467–9
Yoneda A, Okada K, Okubo H, Matsuo M, Kishikawa H, Naing BT, et al. Spontaneous colon perforations associated with a vascular type of ehlers-danlos syndrome. Case Rep Gastroenterol. 2014;8(2):175–81
Kashizaki F, Hatamochi A, Kamiya K, Yoshizu A, Okamoto H. Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report. J Med Case Rep. 2013;7(101293382):35
Dar RA, Wani SH, Mushtaque M, Kasana RA. Spontaneous hemo-pneumothorax in a patient with Ehlers-Danlos syndrome. Gen Thorac Cardiovasc Surg. 2012 Sep;60(9):587–9
Singh M, Puppala S, Pollitt RC, Sobey GJ, Scott DJA. Femoral artery dissection in vascular type Ehlers-Danlos syndrome; leave well alone?. Eur J Vasc Endovasc Surg. 2012;43(3):341–2
Ohyama Y, Iso T, Nino ACV, Obokata M, Takahashi R, Okumura W, et al. Multiple spontaneous coronary artery ruptures and cardiac tamponade in vascular Ehlers-Danlos syndrome. J Cardiol Cases. 2011;3(1):e29–32
Morais P, Mota A, Eloy C, Lopes JM, Torres F, Palmeiro A, et al. Vascular Ehlers-Danlos syndrome: a case with fatal outcome. Dermatol Online J. 2011 Apr;17(4):1
Sadakata R, Hatamochi A, Kodama K, Kaga A, Yamaguchi T, Soma T, et al. Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene. Intern Med. 2010;49(16):1797–800
Nakamura M, Yajima J, Oikawa Y, Ogasawara K, Uejima T, Abe K, et al. Vascular Ehlers-Danlos syndrome--all three coronary artery spontaneous dissections. J Cardiol. 2009 Jun;53(3):458–62
Ishiguro T, Takayanagi N, Kawabata Y, Matsushima H, Yoshii Y, Harasawa K, et al. Ehlers-Danlos syndrome with recurrent spontaneous pneumothoraces and cavitary lesion on chest X-ray as the initial complications. Intern Med. 2009;48(9):717–22
van Bon AC, Kristinsson JO, van Krieken JHJM, Wanten GJ. Concurrent splenic peliosis and vascular Ehlers-Danlos syndrome. Ann Vasc Surg. 2009 Mar;23(2):256.e1-4
Yang JH, Lee ST, Kim JA, Kim SH, Jang SY, Ki CS, et al. Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV. J Korean Med Sci. 2007 Aug;22(4):698–705
Watanabe A, Kosho T, Wada T, Sakai N, Fujimoto M, Fukushima Y, et al. Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan. Circ J. 2007 Feb;71(2):261–5
Watanabe A, Kawabata Y, Okada O, Tanabe N, Kimura H, Hatamochi A, et al. Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene. Eur Respir J. 2002 Jan;19(1):195–8
Tromp G, de Paepe A, Nuytinck L, Madhatheri S, Kuivaniemi H. Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV. Hum Mutat. 1995;5(2):179–81
Nuytinck L, de Paepe A, Renard JP, Adriaens F, Leroy J. Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV. Hum Mutat. 1994;3(3):268–74
Madhatheri SL, Tromp G, Gustavson KH, Kuivaniemi H. Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV. Hum Mol Genet. 1994;3(3):511–2
Richards A, Narcisi P, Lloyd J, Ferguson C, Pope FM. The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV. J Med Genet. 1993;30(8):690–3
Narcisi P, Wu Y, Tromp G, Earley JJ, Richards AJ, Pope FM, et al. Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV. Am J Med Genet. 1993;46(3):278–83
Nuytinck L, Narcisi P, Nicholls A, Renard JP, Pope FM, de Paepe A. Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV. J Med Genet. 1992;29(6):375–80
Kontusaari S, Tromp G, Kuivaniemi H, Stolle C, Pope FM, Prockop DJ. Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. Am J Hum Genet. 1992;51(3):497–507
Johnson PH, Richards AJ, Pope FM, Hopkinson DA. A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis. J Inherit Metab Dis. 1992;15(3):426–30
Richards AJ, Ward PN, Narcisi P, Nicholls AC, Lloyd JC, Pope FM. A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation. Hum Genet. 1992;89(4):414–8
Richards AJ, Lloyd JC, Ward PN, de Paepe A, Narcisi P, Pope FM. Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV. J Med Genet. 1991;28(7):458–63
Bateman JF, Chiodo AA, Weng YM, Chan D, Haan E. A type III collagen Gly559 to Arg helix mutation in Ehler’s-Danlos syndrome type IV. Hum Mutat. 1998;S257-9
McGrory J, Costa T, Cole WG. A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV. Hum Mutat. 1996;7(1):59–60
Tromp G, Kuivaniemi H, Stolle C, Pope FM, Prockop DJ. Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV. J Biol Chem. 1989;264(32):19313–7
Shimaoka Y, Kosho T, Wataya-Kaneda M, Funakoshi M, Suzuki T, Hayashi S, et al. Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome. Br J Dermatol. 2010 Oct;163(4):704–10
Malvido García A, Pantoja Garrido M, Frías Sánchez Z. Muerte materna por shock hemorrágico en gestante con síndrome de Ehlers-Danlos vascular tipo IV [Internet]. Clínica e Investigación en Ginecología y Obstetricia 2018;45(2):78–81
Cortini F, Marinelli B, Romi S, Seresini A, Pesatori AC, Seia M, et al. A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family. Vasc Endovascular Surg. 2017 Apr;51(3):141–5
Rocci A, Paganelli E, Rossetti A, Marcato C, Martorana D, Tassoni MI, et al. Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV. Ital J Med [Internet]. 2015;9(1):77–81.
Ananth AL, Yang Y, Lalani SR, Lotze TB. An unusual cause of peroneal neuropathy. Semin Pediatr Neurol [Internet]. 2014;21(2):77–81
Nanayakkara PWB, van Bunderen CC, Simsek S, Smulders YM, Pals G. Vascular type of Ehlers-Danlos syndrome in a patient with a ruptured aneurysm of the splenic artery. Neth J Med [Internet]. 2006;64(10):374–6
Stembridge NS, Vandersteen AM, Ghali N, Sawle P, Nesbitt M, Pollitt RC, et al. Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene. Am J Med Genet A. 2015 Aug;167A(8):1763–72
Zhang W, Han Q, Zhou M, Ran F, Qiao T, Yi L, et al. Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing. Mol Med Rep. 2017 Feb;15(2):936–40
Ghali N, Baker D, Brady AF, Burrows N, Cervi E, Cilliers D, et al. Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility. Genet Med. 2019 Sep;21(9):2081–91
Yokoi T, Enomoto Y, Tsurusaki Y, Kurosawa K. Siblings with vascular Ehlers-Danlos syndrome inherited via maternal mosaicism. Congenit Anom (Kyoto). 2021 May;61(3):101-102
Tokue M, Hara H, Kurosawa K, Nakamura M. Fulminant myocardial bleeding: another clinical course of vascular Ehlers-Danlos Syndrome. BMJ Case Rep. 2017 Sep 23;2017:bcr2017220786
Samaraweera APR, Laverse E, Henderson A. Pearls & Oy-sters: Vascular EDS presenting with acute proptosis: Always revisit the history. Neurology. 2016 Jul;87(4):e36-8
Hampole C, Philip F, Shafii A, Pettersson G, MD P, Anesi G, et al. Spontaneous Coronary Artery Dissection in Ehlers-Danlos Syndrome. 2011;92(5):1883–4
Neelam M, Charles-Holmes R, Pope F. Venous blebs on the toes in type IV Ehlers-Danlos syndrome. Br J Dermatol. 1999 Mar;140(3):543-4
Alvarez K, Jordi L, Jose Angel H. Hemothorax in vascular Ehlers-Danlos syndrome. Hemotorax en sindrome de Ehlers-Danlos tipo vascular. Reumatol Clin (Engl Ed). 2019 Nov-Dec;15(6):e128-e129.
Konieczynska M, Wypasek E, Karpinski M, Komar M, Symoens S, Coucke PJ, et al. Vascular Ehlers-Danlos syndrome in 2 Polish patients: identification of 2 novel COL3A1 gene mutations. Kardiol Pol. 2019;77(11):1070–3
Chen MJ, Li HF, Mao S. Trigeminal Autonomic Cephalalgias Manifested As The Only Initial Symptom Of Ehlers-Danlos Syndrome Type IV. J Pain Res. 2019;12(101540514):3215–20
Wendorff H, Pelisek J, Zimmermann A, Mayer K, Seidel H, Weirich G, et al. Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1. Cardiovasc Pathol. 2013;22(6):488–92
Burk CJ, Aber C, Connelly EA. Ehlers-Danlos syndrome type IV: keloidal plaques of the lower extremities, amniotic band limb deformity, and a new mutation. J Am Acad Dermatol. 2007 Feb;56(2 Suppl):S53-4
Fuchs JR, Fishman SJ. Management of spontaneous colonic perforation in Ehlers-Danlos syndrome type IV. J Pediatr Surg. 2004 Feb;39(2):e1-3
Thakker-Varia S, Anderson DW, Kuivaniemi H, Tromp G, Shin HG, van der Rest M, et al. Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV. Hum Mutat. 1995;6(2):116–25
Sillence DO, Chiodo AA, Campbell PE, Cole WG. Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele. J Med Genet. 1991;28(12):840–5
Kim MJ, Choe J, Lee BH, Song JW. Ehlers–Danlos syndrome presenting as cystic lung disease with recurrent pneumothorax: a case report. Respirology Case Rep [Internet]. 2021;9(5)
Schwarze U, Goldstein JA, Byers PH. Splicing defects in the COL3A1 gene: marked preference for 5’ (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV. Am J Hum Genet. 1997;61(6):1276–86
Park MA, Shin SY, Kim YJ, Park MJ, Lee SH. Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report. Medicine. 2017 Nov;96(47):e8853
Foulkes A, Pollitt R, Sobey G, Pope F, Taylor A. Palmoplantar contractures in childhood: a rare complication of vascular Ehlers-Danlos syndrome. 2013;38(5):517–9
Shimaoka Y, Hayashi S, Hamasaki Y, Terui K, Hatamochi A. Patient with the vascular type of Ehlers-Danlos syndrome, with a novel point-mutation in the COL3A1 gene. Vol. 40, The Journal of dermatology. England; 2013. p. 226–8
Okamoto O, Ando T, Watanabe A, Sato F, Mimata H, Shimada T, et al. A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome. Arch Dermatol Res. 2008 Oct;300(9):525–9
Pinto Y, Pals G, Zijlstra J, Tulleken J. Ehlers-Danlos Syndrome Type IV. N Engl J Med. 2000 Aug 3;343(5):366-8
Koitabashi N, Yamaguchi T, Fukui D, Nakano T, Umeyama A, Toda K, et al. Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing. Int Heart J. 2018 Sep;59(5):1180–5
Omori H, Hatamochi A, Koike M, Sato Y, Kosho T, Kitakado Y, et al. Sigmoid colon perforation induced by the vascular type of Ehlers-Danlos syndrome: report of a case. Surg Today. 2011;41(5):733–6
Kuivaniemi H, Tromp G, Bergfeld WF, Kay M, Helm TN. Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping. J Invest Dermatol. 1995;105(3):352–6
Chiodo AA, Sillence DO, Cole WG, Bateman JF. Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix. Biochem J. 1995;311(9):939–43
Richards AJ, Narcisi P, Ferguson C, Cobben JM, Pope FM. Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers-Danlos syndrome type IV. Hum Mol Genet. 1994;3(10):1901–2
Lloyd J, Narcisi P, Richards A, Pope FM. A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV. J Med Genet. 1993;30(5):376–80
Kuivaniemi H, Kontusaari S, Tromp G, Zhao MJ, Sabol C, Prockop DJ. Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others. J Biol Chem. 1990;265(20):12067–74
Cole WG, Chiodo AA, Lamande SR, Janeczko R, Ramirez F, Dahl HH, et al. A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. J Biol Chem. 1990;265(28):17070–7
Lee B, Vitale E, Superti-Furga A, Steinmann B, Ramirez F. G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. J Biol Chem. 1991;266(8):5256–9
Park KY, Gill KG, Kohler JE. Intestinal perforation in children as an important differential diagnosis of vascular ehlers-danlos syndrome. Am J Case Rep [Internet]. 2019;20:1057–62
Hayashi S, Lin W, Hamasaki Y, Igawa K. Vascular Ehlers-Danlos syndrome patient with a novel COL3A1 gene deletion mutation without alteration in the triple sequence of (Gly-X-Y) repeat. J Dermatol. 2020 Nov;47(11):e390-e391
Okita H, Ikeda Y, Mitsuhashi Y, Namikawa H, Kitamura Y, Hamasaki Y, et al. A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome. Arch Dermatol Res. 2010 Jul;302(5):395–9
Guven S, Kule O, Gules D, Okumus H, Oruc M, Celbis O. Sudden death as a result of colon perforation; Ehlers-Danlos type IV case with postmortem diagnosis. J Forensic Leg Med. 2020;73(101300022):101969
Pimenta I, Varudo R, Castelao F, Gonzalez FA. Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage. BMJ Case Rep. 2021;14(7)
Milewicz DM, Witz AM, Smith AC, Manchester DK, Waldstein G, Byers PH. Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring. Am J Hum Genet. 1993;53(1):62–70
Richards AJ, Lloyd JC, Narcisi P, Ward PN, Nicholls AC, de Paepe A, et al. A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV. Hum Genet. 1992;88(3):325–30
Lee B, D’Alessio M, Vissing H, Ramirez F, Steinmann B, Superti-Furga A. Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV. Am J Hum Genet. 1991;48(3):511–7
Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B. Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. J Biol Chem. 1988;263(13):6226–32
Mendonça Almeida L, Sousa C, Vilares Morgado P, Fernandes P, Amado J, Paiva JA, et al. Massive Pulmonary Thrombosis Following Haemoptysis in Type IV Ehlers–Danlos Syndrome. Trombosis pulmonar masiva tras hemoptisis en el Síndrome de Ehlers–Danlos tipo IV [Internet]. Arch. bronconeumol. (Ed. impr.). 2021;57(4):309–11
Medvecz M, Fekete G, Mayer B, Kárpá ti S. Genotype-phenotype correlation in vascular Ehlers-Danlos syndrome: Novel duplication mutation of COL3A1 gene in a large pedigree. J Invest Dermatol Symp Proc [Internet]. 2017;137(10):S232
Vissing H, D’Alessio M, Lee B, Ramirez F, Byers PH, Steinmann B, et al. Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV. J Biol Chem [Internet]. 1991;266(8):5244–8
Seve P, Dubreuil O, Farhat F, Plauchu H, Touboul P, Broussolle C. Acute mitral regurgitation caused by papillary muscle rupture in the immediate postpartum period revealing Ehlers-Danlos syndrome type IV. J Thorac Cardiovasc Surg. 2005;129(3):680–1
Olson SL, Murray ML, Skeik N. A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome. Ann Vasc Surg. 2019 Nov;61:472.e9-472.e13
Yagyu T, Ida K, Noguchi T, Yasuda S. Multiple Arterial Dissections in a Patient With Vascular Ehlers-Danlos Syndrome Caused by a Frameshift Mutation in COL3A1. Circ J. 2019 Oct;83(11):2324
Naing BT, Watanabe A, Tanigaki S, Ono M, Iwashita M, Shimada T. Presymptomatic genetic analysis during pregnancy for vascular type Ehlers-Danlos syndrome. Int Med Case Rep J. 2014;7(101566269):99–102
Plancke A, Holder-Espinasse M, Rigau V, Manouvrier S, Claustres M, Khau Van Kien P. Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. Eur J Hum Genet. 2009 Nov;17(11):1411–6
Dohle C, Baehring JM. Multiple strokes and bilateral carotid dissections: A fulminant case of newly diagnosed Ehlers-Danlos Syndrome Type IV. J Neurol Sci [Internet]. 2012;318(1):168–70
Frank M, Adham S, Zinzindohoué F, Jeunemaitre X. Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review. J Gastroenterol Hepatol. 2019 May;34(5):857–63
Boussouar S, Benattia A, Escudie JB, Gibault L, Capron F, Legrand A, et al. Vascular Ehlers-Danlos syndrome (vEDS): CT and histologic findings of pleural and lung parenchymal damage. Eur Radiol. 2021;31(8):6275–85
Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, et al. Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome. Genet Med. 2019 Jul;21(7):1568–75
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, et al. The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. Eur J Hum Genet. 2015 Dec;23(12):1657–64
Shalhub S, Black JH 3rd, Cecchi AC, Xu Z, Griswold BF, Safi HJ, et al. Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes. J Vasc Surg. 2014 Jul;60(1):160–9
Leistritz DF, Pepin MG, Schwarze U, Byers PH. COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy. Genet Med. 2011 Aug;13(8):717–22
Pepin M, Schwarze U, Superti-Furga A, Byers P. Clinical and Genetic Features of Ehlers-Danlos Syndrome Type IV, the Vascular Type. N Engl J Med. 2000 Mar 9;342(10):673-80
Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH. Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). Genet Med. 2014 Dec;16(12):881–8
Murray ML, Pepin M, Peterson S, Byers PH. Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome. Gen Med [Internet]. 2014;16(12):874–80
Mitchell AL, Schwarze U, Jennings JF, Byers PH. Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS). Hum Mutat. 2009 Jun;30(6):995–1002
Malfait F, Symoens S, De Backer J, Hermanns-Lê T, Sakalihasan N, Lapière CM, et al. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. Hum Mutat. 2007 Apr;28(4):387–95
Lu Y, Zhang S, Wang Y, Ren X, Han J. Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen. Intractable Rare Dis Res. 2019;8(2):98–107
Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH. The Ehlers–Danlos syndromes. Nat Rev Disease Prim [Internet]. 2020;6(1)
Connizzo B, Freedman B, Fried J, Sun M, Birk D, Soslowsky L. Regulatory role of collagen V in establishing mechanical properties of tendons and ligaments is tissue dependent. J Orthop Res. 2015 Jun;33(6):882-8
Malfait F, De Paepe A. Molecular genetics in classic Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2005 Nov;139C(1):17–23
Malfait F, Wenstrup RJ, De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med. 2010 Oct;12(10):597–605
Malfait F, Wenstrup R, De Paepe A. Classic Ehlers-Danlos Syndrome. 2007 May 29 [updated 2018 Jul 26]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023
Pallotta R, Ehresmann T, Fusilli P, De Paepe A, Nuytinck L. Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome [3]. Am J Med Genet [Internet]. 2004;128(4):436–8
Beighton P, de Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet. 1988 Mar;29(3):581–94
Zainal A, Hamad M, Naqvi S. Dilated aortic root and severe aortic regurgitation causing dilated cardiomyopathy in classic Ehlers-Danlos syndrome. BMJ Case Rep. 2016 Jul 13;2016:bcr2016215943
Mehta S, Dhar SU, Birnbaum Y. Common iliac artery aneurysm and spontaneous dissection with contralateral iatrogenic common iliac artery dissection in classic ehlers-danlos syndrome. Int J Angiol. 2012;21(3):167–70
de Leeuw K, Goorhuis J, Tielliu I, Symoens S, Malfait F, de Paepe A, et al. Superior Mesenteric Artery Aneurysm in a 9-Year-Old Boy With Classical Ehlers-Danlos Syndrome. Am J Med Genet A. 2012 Mar;158A(3):626-9
De Paepe A, Malfait F. Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. Br J Haematol. 2004 Dec;127(5):491–500
Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8–26
Adham S, Dupuis-Girod S, Charpentier E, Mazzella JM, Jeunemaitre X, Legrand A. Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant. Clin Genet. 2020 Feb;97(2):357–61
Gong Z, Wang H, Lin Z. Glycine substitution mutation of COL5A1 in classic Ehlers-Danlos syndrome: a case report and literature review. Clin Exp Dermatol. 2021 Jul;46(5):987-989
Angwin C, Brady A, Pope F, Vandersteen A, Baker D, Cheema H, et al. Arterial complications in classical Ehlers-Danlos syndrome: a case series. J Med Genet. 2020 Nov;57(11):769-776
Xu X, Wang Z, Zan T. A case of Ehlers-Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area: A case report. Medicine (Baltimore). 2019 Sep;98(37):e17138
Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, et al. Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1. Am J Med Genet A. 2015 Jun;167(6):1196–203
Colombi M, Dordoni C, Venturini M, Zanca A, Calzavara-Pinton P, Ritelli M. Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review. Am J Med Genet A. 2017 Feb;173(2):524–30
Symoens S, Malfait F, Renard M, André J, Hausser I, Loeys B, et al. COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. Hum Mutat. 2009 Feb;30(2):E395-403
Hermanns-Le, Piérard GE. Multifaceted Dermal Ultrastructural Clues for Ehlers-Danlos Syndrome with Arterial Rupture and Type I Collagen R-to-C Substitution. Am J Dermatopathol. 2007 Oct;29(5):449-51
Richards A, Martin S, Nicholls A, Harrison J, Pope F, Burrows N. A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. J Med Genet. 1998 Oct;35(10):846-8
Duong J, Rideout A, MacKay S, Beis J, Parkash S, Schwarze U, et al. A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1. Eur J Med Genet. 2020 Feb;63(2):103730
Chiarelli N, Carini G, Zoppi N, Ritelli M, Colombi M. Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts. PLoS One. 2019;14(2):e0211647
Almatrafi A, Hashmi JA, Fadhli F, Alharbi A, Afzal S, Ramzan K, et al. Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation. Glob Med Genet. 2020;7(4):109–12
Butler MG. Classic Ehlers-Danlos syndrome and cardiac transplantation - Is there a connection?. World J Cardiol. 2020;12(8):368–72
Errichiello E, Malara A, Grimod G, Avolio L, Balduini A, Zuffardi O. Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome. Eur J Med Genet. 2021;64(1):104099
Junkiert-Czarnecka A, Pilarska-Deltow M, Bak A, Heise M, Haus O. New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases. Postepy Dermatol Alergol. 2019;36(1):29–33
Watanabe M, Nakagawa R, Naruto T, Kohmoto T, Suga KI, Goji A, et al. A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome. Hum Genome Var. 2016;3(101652445):16030
Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum Mutat. 2005 Jan;25(1):28–37
Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. Am J Med Genet. 2002;109(4):284–90
Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le T, De Paepe A. Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. Am J Hum Genet. 2000;66(4):1398–402
Giunta C, Steinmann B. Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?. Am J Med Genet. 2000;90(1):72–9
De Paepe A, Nuytinck L, Hausser I, Anton-Lamprecht I, Naeyaert JM. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. Am J Hum Genet. 1997;60(3):547–54
Smith S, Mehta SG, Burrows N. A rare form of classical Ehlers-Danlos syndrome with arterial rupture. Br J Dermatol [Internet]. 2016;174(4):e28
Alzahrani F, Alkeraye S, Alkuraya FS. The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome. Clin Genet. 2018 Apr;93(4):936-937
Mao D, Mu Z, Yang Y, Cao L, Xu Q, Du J, et al. Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome. J Dermatol. 2018 Mar;45(3):370-371
Ott HW, Perkhofer S, Coucke PJ, de Paepe A, Spannagl M. Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. Haemophilia. 2016 Jul;22(4):e309-11
Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C. Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. Am J Med Genet A. 2010 Aug;152A(8):2090–3
Chiu WC, Chen SH, Lo MC, Kuo YT. Classic Ehlers-Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1. BMC Pediatr. 2020;20(1):495
Wardeh A, Jackson T, Nelson B, Ernst C, Theroux JF, Al-Hertani W, et al. Identification of a de novo case of COL5A1-related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care. Clin Case Rep. 2018;6(11):2256–61
Morais P, Ferreira O, Magina S, Silva C, Leão M, Maia A, et al. Classic Ehlers-Danlos syndrome: case report and brief review of literature. Acta Dermatovenerol Croat. 2013;21(2):118–22
Cortini F, Villa C, Marinelli B, Franchetti S, Seia M, Pesatori AC, et al. Ehlers-Danlos Syndrome classical type: A novel COL5A2 missense mutation with possible additive effect of a COL5A1 stop-gain mutation in a strongly correlated phenotype. Meta Gene [Internet]. 2018;18:132–6
Mao D, Mu Z, Yang Y, Cao L, Xu Q, Du J et al. Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome. J Dermatol. 2018 Mar;45(3):370-371
Kiyohara T, Okubo Y, Yamaguchi M, Yozaki M, Usui F, Muto M, et al. COL5A1 gene mutation in three cases of classic type Ehlers-Danlos syndrome. J Dermatol Sci [Internet]. 2016;84(1):e144
Nicholls A, Oliver J, McCarron S, Harrison J, Greenspan D, Pope F. An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. J Med Genet. 1996 Nov;33(11):940-6
Angwin C, Brady AF, Colombi M, Ferguson DJP, Pollitt R, Pope FM, et al. Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients. Genes (Basel). 2019 Sep 27;10(10):762
Colombi M, Dordoni C, Cinquina V, Venturini M, Ritelli M. A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing. Eur J Med Genet. 2018 Jan;61(1):17–20
Symoens S, Malfait F, Vlummens P, Hermanns-Lê T, Syx D, De Paepe A. A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement. PLoS One. 2011;6(5):e20121
Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H, Smith LT, et al. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. Am J Hum Genet. 2002 Sep;71(3):451–65
Burrows NP, Nicholls AC, Richards AJ, Luccarini C, Harrison JB, Yates JR, et al. A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. Am J Hum Genet. 1998;63(2):390–8
Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG. Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. Hum Mol Genet. 1998;7(2):249–55
Ma N, Zhu Z, Liu J, Peng Y, Zhao X, Tang W, et al. Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2. Mol Genet Genomic Med [Internet]. 2021;9(5):e1632
Morais P, Peralta L, Sousa S, Silva J. Ehlers-danlos syndrome: A diagnosis to be considered. J German Soc Dermatol [Internet]. 2014;12:23
Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, et al. Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1. Congenit Anom (Kyoto). 2018 Nov;58(6):191-193
Ritelli M, Cinquina V, Venturini M, Colombi M. Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing. Mol Genet Genomic Med. 2020;8(10):e1422
Wenstrup RJ, Langland GT, Willing MC, D’Souza VN, Cole WG. A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). Hum Mol Genet. 1996;5(11):1733–6
Savasta S, Verrotti A, Sparta MV, Foiadelli T, Villa MP, Parisi P. Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers-Danlos syndrome. Epilepsy Behav Case Rep. 2015;4(101614202):27–9
Ritelli M, Venturini M, Cinquina V, Chiarelli N, Colombi M. Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives. Orphanet J Rare Dis. 2020;15(1):197
Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, et al. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis. 2013 Apr;8:58
Colman M, Syx D, De Wandele I, Dhooge T, Symoens S, Malfait F. Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome. Hum Mutat. 2021 Oct;42(10):1294-1306
Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, et al. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat. 2012 Oct;33(10):1485–93
Colombi M, Dordoni C, Venturini M, Ciaccio C, Morlino S, Chiarelli N, et al. Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients. Clin Genet. 2017 Dec;92(6):624–31
Aktar R, Peiris M, Fikree A, Cibert-Goton V, Walmsley M, Tough IR, et al. The extracellular matrix glycoprotein tenascin-X regulates peripheral sensory and motor neurones. J Physiol. 2018 Sep;596(17):4237–51
Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, et al. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115
Brellier F, Tucker RP, Chiquet-Ehrismann R. Tenascins and their implications in diseases and tissue mechanics. Scand J Med Sci Sports. 2009 Aug;19(4):511–9
Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, et al. Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. Am J Hum Genet. 2018 Apr;102(4):696–705
Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, et al. A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings. Am J Med Genet A. 2019 Jan;179(1):50–6
Syx D, De Wandele I, Symoens S, De Rycke R, Hougrand O, Voermans N, et al. Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome. Hum Mol Genet. 2019 Jun;28(11):1853–64
Ritelli M, Cinquina V, Venturini M, Pezzaioli L, Formenti AM, Chiarelli N, et al. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome. Genes (Basel). 2019 Feb;10(2)
Sakiyama T, Kubo A, Sasaki T, Yamada T, Yabe N, Matsumoto K ichi, et al. Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency. J Dermatol. 2015 May;42(5):511–4
Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, et al. Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Clin Genet. 2017 Mar;91(3):411–25
Chen W, Perritt AF, Morissette R, Dreiling JL, Bohn MF, Mallappa A, et al. Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia. Hum Mutat. 2016 Sep;37(9):893–7
Merke DP, Chen W, Morissette R, Xu Z, Van Ryzin C, Sachdev V, et al. Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2013 Feb;98(2):E379-87
Hendriks AGM, Voermans NC, Schalkwijk J, Hamel BC, van Rossum MM. Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases. Clin Dysmorphol. 2012 Jan;21(1):15–8
Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, et al. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med. 2001 Oct;345(16):1167–75
Micale L, Guarnieri V, Augello B, Palumbo O, Agolini E, Sofia VM, et al. Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome. Genes (Basel). 2019 Nov;10(12)
Rymen D, Ritelli M, Zoppi N, Cinquina V, Giunta C, Rohrbach M, et al. Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant. Genes (Basel). 2019 Oct;10(11)
Watanabe S, Ito Y, Samura O, Nakano H, Sawamura D, Asahina A, et al. Novel gross deletion mutation c.-105_4042+498del in the TNXB gene in a Japanese woman with classical-like Ehlers-Danlos syndrome: A case of uneventful pregnancy and delivery. J Dermatol. 2021;48(5):e227–8
Brisset M, Metay C, Carlier RY, Badosa C, Marques C, Schalkwijk J, et al. Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness. Neuromuscul Disord. 2020;30(10):833–8
Kaufman CS, Butler MG. Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome. World J Med Genet. 2016;6(2):17–21
Mirza N, Upadhyaya S, Mehta S, Malhotra S, Sibal A. Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene. J Pediatr Genet [Internet]. 2021
Wyrwoll M, Horvath J, Busche A, Müller-Hofstede C, Ruckert C, Wieacker P. Two novel mutations of Tenascin-X cause an autosomal-recessive subtype of Ehlers-Danlos-Syndrome. Med Genet [Internet]. 2018;30(1):180–1
Kolli V, Kim H, Rao H, Lao Q, Gaynor A, Milner JD, et al. Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X. BMC Res Notes. 2019 Oct;12(1):711
Lao Q, Brookner B, Merke DP. High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. J Mol Diagn. 2019 Sep;21(5):924–31
Green C, Ghali N, Akilapa R, Angwin C, Baker D, Bartlett M, et al. Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility. Genet Med. 2020;22(10):1576–82
Marino R, Garrido NP, Ramirez P, Notaristéfano G, Moresco A, Touzon MS, et al. Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab [Internet]. 2021;106(7):e2789–802
dc.rights.coar.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.rights.license.spa.fl_str_mv Atribución-NoComercial-SinDerivadas 4.0 Internacional
dc.rights.uri.spa.fl_str_mv http://creativecommons.org/licenses/by-nc-nd/4.0/
dc.rights.accessrights.spa.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv Atribución-NoComercial-SinDerivadas 4.0 Internacional
http://creativecommons.org/licenses/by-nc-nd/4.0/
http://purl.org/coar/access_right/c_abf2
eu_rights_str_mv openAccess
dc.format.extent.spa.fl_str_mv 177 páginas
dc.format.mimetype.spa.fl_str_mv application/pdf
dc.publisher.spa.fl_str_mv Universidad Nacional de Colombia
dc.publisher.program.spa.fl_str_mv Bogotá - Medicina - Maestría en Morfología Humana
dc.publisher.faculty.spa.fl_str_mv Facultad de Medicina
dc.publisher.place.spa.fl_str_mv Bogotá, Colombia
dc.publisher.branch.spa.fl_str_mv Universidad Nacional de Colombia - Sede Bogotá
institution Universidad Nacional de Colombia
bitstream.url.fl_str_mv https://repositorio.unal.edu.co/bitstream/unal/84500/1/license.txt
https://repositorio.unal.edu.co/bitstream/unal/84500/2/52428595.2023.pdf
https://repositorio.unal.edu.co/bitstream/unal/84500/3/52428595.2023.pdf.jpg
bitstream.checksum.fl_str_mv eb34b1cf90b7e1103fc9dfd26be24b4a
22293e628ceffd38aebe8c8bc6013fef
80f66e88f897c422c77d3b2235826d67
bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
MD5
repository.name.fl_str_mv Repositorio Institucional Universidad Nacional de Colombia
repository.mail.fl_str_mv repositorio_nal@unal.edu.co
_version_ 1814090228618493952
spelling Atribución-NoComercial-SinDerivadas 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2García Cardona, Ananíasa8cc134415becd070bde2a9d0becc0beGaravito Rodríguez, Édgar1529fb77274c177a00a6375503702e1dRodríguez Hernández, Andrea Esperanza2ea935c8aeca87e1067288947813013dEvaluacion de Tecnologias y Politicas en SaludANDREA ESPERANZA RODRíGUEZ HERNÁNDEZ [0000000322868516]2023-08-08T20:53:19Z2023-08-08T20:53:19Z2023https://repositorio.unal.edu.co/handle/unal/84500Universidad Nacional de ColombiaRepositorio Institucional Universidad Nacional de Colombiahttps://repositorio.unal.edu.co/ilustraciones, diagramasOBJETIVO: Describir la relación genotipo-fenotipo en el Síndrome de Ehlers-Danlos vascular (vEDS), el Síndrome Ehlers-Danlos Clásico y el Síndrome de Ehlers-Danlos similar al Clásico (clEDS). METODOLOGÍA: Revisión de alcance desarrollada bajo metodología del Instituto Joanna Briggs (The University Adelaide, South Australia). Se consultaron las bases de datos Pubmed, Embase, OVID, LILACS, Cochrane Library y Open Gray. Se incluyeron estudios observacionales descriptivos y analíticos que describieran las manifestaciones clínicas y mutaciones asociadas a síndromes descritos. También se incluyeron artículos de revisión que describieran las características de las proteínas asociadas a los síndromes: vEDS(Colágeno Tipo III), cEDS(Colágenos tipo V y tipo I), clEDS(Tenascina XB y ACLP). Los resultados se exportaron al software Rayyan®, para la tamización de las referencias. Las variables fueron registradas en formato electrónico. Se incluyeron estudios en español, inglés, alemán, francés, italiano y portugués. Se realizó una síntesis narrativa con los estudios seleccionados. RESULTADOS: Se obtuvieron 6.120 referencias, se removieron 1.797 duplicados, las 4.323 referencias restantes fueron tamizadas por título y abstract en el software Rayyan®, teniendo en cuenta criterios de selección previamente definidos. Se obtuvieron 689 referencias para ser revisadas en texto completo y fueron seleccionados 342 artículos para síntesis de evidencia (vEDS: 187, cEDS: 67, clEDS:44, artículos de revisión:44). La relación entre manifestaciones clínicas y tipos de mutación (nonsense, missense, exón skipping, frameshift, etc.) fue descrita para cEDS, clEDS, vEDS. CONCLUSIONES: Existe una mejor relación genotipo-fenotipo para vEDS en comparación con cEDS. Se requieren más estudios para establecer una mejor relación genotipofenotipo en el clEDS. (Texto tomado de la fuente)OBJECTIVE: To describe the phenotype-genotype relationship in Vascular Ehlers-Danlos Syndrome(vEDS), Classical Ehlers-Danlos Syndrome(cEDS) and Classical-Like EhlersDanlos Syndrome(clEDS). METHODS: A scoping review was carried out based on the Joanna Briggs Institute Guide. The search was conducted in the Pubmed, Embase, OVID, LILACS, Cochrane Library and Open Gray medical databases. The search included analytical and descriptive observational studies that described the clinical manifestations and associated mutations to the type of EDS. Review articles describing the characteristics of the proteins associated with the syndromes were also included: vEDS:Col III, cEDS:Col I-V, clEDS:TenascinXB and ACLP. The researchers selected the studies using Rayyan® software and extracted data in an electronic format. Studies in English, Spanish, German, French, Italian and Portuguese were included. A narrative synthesis of the findings is made. RESULTS: The literature search in the databases generated a total of 6,120 results, of which 1,797 were duplicates; 4,323 references were obtained to be screened by title and abstract. The screening was carried out using the Rayyan® software, taking into account the previously defined selection criteria, 689 titles were selected to be reviewed in full text, of which 342 studies were selected to carry out the evidence synthesis (vEDS:187, cEDS:67, clEDS:44 and Review articles:44). The correlation of clinical manifestations and type of mutation (nonsense, missense, exon skipping, frameshift, etc.) was performed for cEDS, clEDS and vEDS. CONCLUSIONS: vEDS type allows a better phenotype-genotype correlation compared to cEDS. More studies are required to establish a phenotype-genotype correlation in clEDS.MaestríaMagíster en Morfología HumanaScoping Review (Revisión de Alcance) en la que se utilizó la metodología del Instituto Joanna Briggs JBI (The University Adelaide, South Australia).Genética e Histología177 páginasapplication/pdfspaUniversidad Nacional de ColombiaBogotá - Medicina - Maestría en Morfología HumanaFacultad de MedicinaBogotá, ColombiaUniversidad Nacional de Colombia - Sede Bogotá610 - Medicina y salud::611 - Anatomía humana, citología, histología610 - Medicina y salud::616 - Enfermedades610 - Medicina y salud::618 - Ginecología, obstetricia, pediatría, geriatría570 - Biología::576 - Genética y evoluciónGENOTIPOSGenotypesFENOTIPOSPhenotypeSINDROME DE EHLERS-DANLOSEhlers-Danlos syndromeCollagen Type VCollagen Type IIICollagen Type IEhlers-Danlos Syndrometenascin-X deficiencyAEBP1 proteinColágeno Tipo IColágeno Tipo IIIColágeno Tipo VSíndrome de Ehlers-DanlosTenascina XBProteína del gen AEBP1Características moleculares, funciones y mutaciones de los Colágenos tipo I, III y V, de la Tenascina XB, y de la Proteína Similar a la Carboxipeptidasa Aórtica (ACLP), en la matriz extracelular: la relación fenotipo-genotipo en el Síndrome de Ehlers-Danlos Clásico, similar al clásico y vascular. Una Revisión de alcanceMolecular characteristics, functions and mutations of type I, III and V Collagens, Tenascin XB, and Aortic Carboxypeptidase-like Protein (ACLP) in the extracellular matrix: the phenotype-genotype relationship in Classical Ehlers-Danlos Syndrome, Classical-like Ehlers-Danlos Syndrome and Vascular Ehlers-Danlos Syndrome. A scoping reviewTrabajo de grado - Maestríainfo:eu-repo/semantics/masterThesisinfo:eu-repo/semantics/acceptedVersionTexthttp://purl.org/redcol/resource_type/TMTheocharis AD, Manou D, Karamanos NK. The extracellular matrix as a multitasking player in disease. FEBS J. 2019 Aug 11;286(15):2830–69Chiarelli N, Ritelli M, Zoppi N, Colombi M. Cellular and Molecular Mechanisms in the Pathogenesis of Classical, Vascular, and Hypermobile Ehlers‒Danlos Syndromes. Genes (Basel). 2019 Aug;10(8)Thorpe CT, Birch HL, Clegg PD, Screen HRC. The role of the non-collagenous matrix in tendon function. Int J Exp Pathol. 2013 Aug;94(4):248–59Howard D, Shepherd JH, Kew SJ, Hernandez P, Ghose S, Wardale JA, et al. Release of growth factors from a reinforced collagen GAG matrix supplemented with platelet rich plasma: Influence on cultured human meniscal cells. J Orthop Res. 2014 Feb;32(2):273–8Taye N, Karoulias SZ, Hubmacher D. The “other” 15-40%: The Role of Non-Collagenous Extracellular Matrix Proteins and Minor Collagens in Tendon. J Orthop Res. 2020 Jan;38(1):23–35Li L, Mao B, Li S, Xiao J, Wang H, Zhang J, et al. Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. Hum Mutat. 2019 May;40(5):588–600Wang K, Zhao S, Zhang Q, Yuan J, Liu J, Ding X, et al. Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD). J Hum Genet. 2018 Nov;63(11):1119–28Halper J, Kjaer M. Basic components of connective tissues and extracellular matrix: elastin, fibrillin, fibulins, fibrinogen, fibronectin, laminin, tenascins and thrombospondins. Adv Exp Med Biol. 2014;802:31–47Malfait F, De Paepe A. The Ehlers-Danlos syndrome. Adv Exp Med Biol. 2014;802:129–43De Paepe A, Malfait F. The Ehlers-Danlos syndrome, a disorder with many faces. Clin Genet. 2012 Jul;82(1):1–11Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8–26Verdure P, Triquenot-Bagan A, Perdu J, Gerardin E, Laquerriere A, Hannequin D, et al. [Multiple cervical arterial dissections in two brothers: fibro-muscular dysplasia or connective tissue disease?]. Rev Neurol (Paris). 2008 Sep;164 Spec N:F211-5Fuchs JR, Fishman SJ. Management of spontaneous colonic perforation in Ehlers-Danlos syndrome type IV. J Pediatr Surg. 2004 Feb;39(2):e1-3Brellier F, Tucker RP, Chiquet-Ehrismann R. Tenascins and their implications in diseases and tissue mechanics. Scand J Med Sci Sports. 2009 Aug;19(4):511–9Zweers MC, Hakim AJ, Grahame R, Schalkwijk J. Joint hypermobility syndromes: the pathophysiologic role of tenascin-X gene defects. Arthritis Rheum. 2004 Sep;50(9):2742–9Bristow J, Carey W, Egging D, Schalkwijk J. Tenascin-X, collagen, elastin, and the Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2005 Nov;139C(1):24–30Burk CJ, Aber C, Connelly EA. Ehlers-Danlos syndrome type IV: keloidal plaques of the lower extremities, amniotic band limb deformity, and a new mutation. Vol. 56, Journal of the American Academy of Dermatology. United States; 2007. p. S53-4Lao Q, Brookner B, Merke DP. High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. J Mol Diagn. 2019 Sep;21(5):924–31Kawakami K, Matsumoto K ichi. Behavioral alterations in mice lacking the gene for tenascin-x. Biol Pharm Bull. 2011;34(4):590–3Valcourt U, Alcaraz LB, Exposito JY, Lethias C, Bartholin L. Tenascin-X: beyond the architectural function. Cell Adh Migr. 2015;9(1–2):154–65Bauer A, de Lucia M, Leuthard F, Jagannathan V, Leeb T. Compound heterozygosity for TNXB genetic variants in a mixed-breed dog with Ehlers-Danlos syndrome. Anim Genet. 2019 Oct;50(5):546–9Ritelli M, Cinquina V, Venturini M, Pezzaioli L, Formenti AM, Chiarelli N, et al. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome. Genes (Basel). 2019 Feb;10(2)Syx D, De Wandele I, Symoens S, De Rycke R, Hougrand O, Voermans N, et al. Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome. Hum Mol Genet. 2019 Jun;28(11):1853–64Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, et al. Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. Am J Hum Genet. 2018 Apr;102(4):696–705Roche P, Czubryt MP. Transcriptional control of collagen I gene expression. Cardiovasc Hematol Disord Drug Targets. 2014;14(2):107–20Sorushanova A, Delgado LM, Wu Z, Shologu N, Kshirsagar A, Raghunath R, et al. The Collagen Suprafamily: From Biosynthesis to Advanced Biomaterial Development. 2019;31(1):e1801651Fujita D. Utilizing Next-Generation Sequencing for the Diagnosis and Clinical Management of Vascular Ehlers-Danlos Syndrome. Vol. 59, International heart journal. Japan; 2018. p. 911–3Uitto J, Ringpfeil F. Ehlers-Danlos syndrome-molecular genetics beyond the collagens. J Invest Dermatol. 2004 Apr;122(4):xii-xiiiMalfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum Mutat. 2005 Jan;25(1):28–37Morissette R, McDonnell NB, Merke DP. Tenascin-X gene defects and cardiovascular disease. Med Hypotheses. 2014 Dec;83(6):844Zweers MC, van Vlijmen-Willems IM, van Kuppevelt TH, Mecham RP, Steijlen PM, Bristow J, et al. Deficiency of tenascin-X causes abnormalities in dermal elastic fiber morphology. J Invest Dermatol. 2004 Apr;122(4):885–91Chen W, Perritt AF, Morissette R, Dreiling JL, Bohn MF, Mallappa A, et al. Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia. Hum Mutat. 2016 Sep;37(9):893–7O’Connell M, Burrows NP, van Vlijmen-Willems MJJ, Clark SM, Schalkwijk J. Tenascin-X deficiency and Ehlers-Danlos syndrome: a case report and review of the literature. Br J Dermatol. 2010 Dec;163(6):1340–5D’hondt S, Guillemyn B, Syx D, Symoens S, De Rycke R, Vanhoutte L, et al. Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model. Matrix Biol. 2018 Sep;70:72–83Pickup MJ, Pollanen MS. Traumatic subarachnoid hemorrhage and the COL3A1 gene: emergence of a potential causal link. Forensic Sci Med Pathol. 2011 Jun;7(2):192–7Perdu J, Boutouyrie P, Lahlou-Laforêt K, Khau Van Kien P, Denarié N, Mousseaux E, et al. [Vascular Ehlers-Danlos syndrome]. Presse Med. 2006 Dec;35(12 Pt 2):1864–75Nakamura M, Yajima J, Oikawa Y, Ogasawara K, Uejima T, Abe K, et al. Vascular Ehlers-Danlos syndrome--all three coronary artery spontaneous dissections. J Cardiol. 2009 Jun;53(3):458–62Sadakata R, Hatamochi A, Kodama K, Kaga A, Yamaguchi T, Soma T, et al. Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene. Intern Med. 2010;49(16):1797–800Sahata T, Tsuda S, Abo M, Sanekata K, Yamagishi T, Aoki Y, et al. [Ehlers-Danlos syndrome with a frequent intestinal perforation]. Nihon Naika Gakkai Zasshi. 2009 Apr;98(4):852–4Watanabe A, Kosho T, Wada T, Sakai N, Fujimoto M, Fukushima Y, et al. Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan. Circ J. 2007 Feb;71(2):261–5Mizuno K, Boudko S, Engel J, Bächinger HP. Vascular Ehlers-Danlos syndrome mutations in type III collagen differently stall the triple helical folding. J Biol Chem. 2013 Jun;288(26):19166–76Sobrido Prieto M, Rumbo-Prieto JM. The systematic review: Plurality of approaches and methodologies. Enferm Clin. 2018 Nov 1;28(6):387–93Munn Z, Peters MDJ, Stern C, Tufanaru C, McArthur A, Aromataris E. Systematic review or scoping review? Guidance for authors when choosing between a systematic or scoping review approach. BMC Med Res Methodol. 2018 Nov 19;18(1):143M. Peters, C. Godfrey, P. McInerney, Z. Munn, AC. Tricco HK. Scoping Reviews (2020 version). In: Aromataris E, Munn Z, editors. JBI Manual for Evidence Synthesis. 4th ed. University of Adelaide, South Australia, Australia: JBI; 2020. p. 407–52Ministerio de Salud. Resolución número 8430 de 1993: Por la cual se establecen las normas científicas, técnicas y administrativas para la investigación en salud. Colombia: Ministerio de Salud; 1993 p. 1–19Asociación Médica Mundial. Declaración de Helsinki de la AMM – Principios éticos para las investigaciones médicas en seres humanos. Helsinki, Finlandia; 1964Tricco AC, Lillie E, Zarin W, O’Brien KK, Colquhoun H, Levac D, et al. PRISMA Extension for Scoping Reviews (PRISMA-ScR): Checklist and Explanation. Ann Intern Med. 2018 Oct;169(7):467–73Garrido-Cardenas JA, Garcia-Maroto F, Alvarez-Bermejo JA, Manzano-Agugliaro F. DNA Sequencing Sensors: An Overview. Sensors (Basel). 2017 Mar14;17(3)Zhang J, Chiodini R, Badr A, Zhang G. The impact of next-generation sequencing on genomics. J Genet Genomics. 2011 Mar 20;38(3):95–109Soto JL, Blanco I, Díez O, García Planells J, Lorda I, Matthijs G, et al. Documento de consenso sobre la implementación de la secuenciación masiva de nueva generación en el diagnóstico genético de la predisposición hereditaria al cáncer. Med Clin (Barc). 2018Metzker ML. Sequencing technologies — the next generation. Nature Reviews Genetics 2010 11:1. 2009 Dec 8;11(1):31–46Liu L, Li Y, Li S, Hu N, He Y, Pong R, et al. Comparison of next-generation sequencing systems. J Biomed Biotechnol. 2012;2012McCombie WR, McPherson JD, Mardis ER. Next-Generation Sequencing Technologies. Cold Spring Harb Perspect Med. 2019 Nov 1;9(11)Bahassi EM, Stambrook PJ. Next-generation sequencing technologies: breaking the sound barrier of human genetics. Mutagenesis. 2014 Sep;29(5):303–10Lay-Son RG, León PL. Perspectivas actuales sobre el diagnóstico genómico en pediatría. Rev Chil Pediatr. 2015 Jan 1;86(1):3–11Calabria I, Pedrola L, Berlanga P, Aparisi MJ, Sánchez-Izquierdo D, Cañete A, et al. The new challenge in oncology: Next-generation sequencing and its application in precision medicine. Anales de Pediatría (English Edition). 2016 Nov 1;85(5):273.e1-273.e7Meulemeester E De, Malfait F, Syx D. Next-Generation Sequencing for Ehlers-Danlos Syndrome. Ghent University; 2018. Tesis de Maestría, disponible en: https://lib.ugent.be/nl/catalog/rug01:002479732Hsu RH, Chien YH, Hwu WL, Lee NC. Diversity in heritable disorders of connective tissue at a single center. Connect Tissue Res. 2020;1–6Weerakkody RA, Vandrovcova J, Kanonidou C, Mueller M, Gampawar P, Ibrahim Y, et al. Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. Genet Med. 2016;18(11):1119–27Cortini F, Villa C, Marinelli B, Combi R, Pesatori AC, Bassotti A. Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing. Arch Dermatol Res. 2019;311(4):265–75Kuivaniemi H, Tromp G. Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. Gene. 2019 Jul;707:151–71De Paepe A. Ehlers-Danlos syndrome type IV. Clinical and molecular aspects and guidelines for diagnosis and management. Dermatology. 1994;189:21–5De Paepe A, Malfait F. Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. Br J Haematol. 2004 Dec;127(5):491–500Bowen CJ, Calderón Giadrosic JF, Burger Z, Rykiel G, Davis EC, Helmers MR, et al. Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome. J Clin Invest. 2020 Feb;130(2):686–98Drera B, Zoppi N, Ritelli M, Tadini G, Venturini M, Wischmeijer A, et al. Diagnosis of vascular Ehlers-Danlos syndrome in Italy: clinical findings and novel COL3A1 mutations. Vol. 64, Journal of dermatological science. Netherlands; 2011. p. 237–40Horn D, Siebert E, Seidel U, Rost I, Mayer K, Abou Jamra R, et al. Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities. Am J Med Genet A. 2017 Sep;173(9):2534–8Pope FM, Narcisi P, Nicholls AC, Liberman M, Oorthuys JW. Clinical presentations of Ehlers Danlos syndrome type IV. Arch Dis Child. 1988;63(9):1016–25Byers PH, Belmont J, Black J, de Backer J, Frank M, Jeunemaitre X, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40–7Beridze N, Frishman WH. Vascular Ehlers-Danlos syndrome: pathophysiology, diagnosis, and prevention and treatment of its complications. Cardiol Rev. 2012;20(1):4–7Chaganti P, Chao J. Bent Out of Shape: A Case of Abdominal Pain. 2019;35(12):e245–7Benrashid E, Ohman JW. Current management of the vascular subtype of Ehlers-Danlos syndrome. Curr Opin Cardiol. 2020 Nov;35(6):603–9Eagleton MJ. Arterial complications of vascular Ehlers-Danlos syndrome. J Vasc Surg. 2016 Dec;64(6):1869–80Shalhub S, Neptune E, Sanchez DE, Dua A, Arellano N, McDonnell NB, et al. Spontaneous pneumothorax and hemothorax frequently precede the arterial and intestinal complications of vascular Ehlers-Danlos syndrome. Am J Med Genet A. 2019 May;179(5):797–802Shalhub S, Byers P, Hicks K, Coleman D, Davis F, et al. A multi-institutional experience in vascular Ehlers-Danlos syndrome diagnosis: From the Society for Clinical Vascular Surgery. 2020;71(1):149–57Lavoie M, Reese J. Asymptomatic bilateral common iliac artery dissections in previously undiagnosed vascular Ehlers-Danlos syndrome. 2019;12(11):e231537Anderson DW, Thakker-Varia S, Tromp G, Kuivaniemi H, Stolle CA. A glycine (415)-to-serine substitution results in impaired secretion and decreased thermal stability of type III procollagen in a patient with Ehlers-Danlos syndrome type IV. Hum Mutat. 1997;9(1):62–3Abrahamsen BJ, Kulseth MA, Paus B. A 19-year-old man with relapsing bilateral pneumothorax, hemoptysis, and intrapulmonary cavitary lesions diagnosed with vascular Ehlers-Danlos syndrome and a novel missense mutation in COL3A1. Chest. 2015 May;147(5):e166–70Tromp G, Kuivaniemi H, Shikata H, Prockop DJ. A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV. J Biol Chem. 1989;264(3):1349–52Inokuchi R, Kurata H, Endo K, Kitsuta Y, Nakajima S, Hatamochi A, et al. Vascular Ehlers-Danlos syndrome without the characteristic facial features: a case report. Medicine. 2014 Dec;93(28):e291Yoshimura Y, Nishijima C, Ikeda K, Ikeda K, Niida Y, Inaoki M. Vascular-type Ehlers-Danlos syndrome presenting as recurrent compartment syndrome. Eur J Dermatol [Internet]. 2011;21(6):1022–3Eder J, Laccone F, Rohrbach M, Giunta C, Aumayr K, Reichel C, et al. A new COL3A1 mutation in Ehlers-Danlos syndrome type IV. Vol. 22, Experimental dermatology. Denmark; 2013. p. 231–4Pope F, Narcisi P, Nicholls A, Germaine D, Pals G, Richards A. COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture. 1996;135(2):163–81Dwivedi A, Hamdallah O, Morris M, Yancey A, Ross C. Varying Presentations in Patients With Symptomatic Type IV Vascular Ehlers-Danlos Syndrome. 2012;46(2):163–6Mortani Barbosa EJ, Pyeritz RE, Litt H, Desjardins B. Vascular Ehlers-Danlos syndrome presenting as rapidly progressive multiple arterial aneurysms and dissections. Am J Med Genet A. 2011 Dec;155A(12):3090–4Pickup MJ, Pollanen MS. Traumatic subarachnoid hemorrhage and the COL3A1 gene: emergence of a potential causal link. Forensic Sci Med Pathol. 2011 Jun;7(2):192–7Gilchrist D, Schwarze U, Shields K, MacLaren L, Bridge PJ, Byers PH. Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in the COL3A1 gene of type III procollagen: low risk of pregnancy complications and unexpected longevity in some affected relatives. Am J Med Genet. 1999;82(4):305–11Collins M, Schwarze U, Carpentieri D, Kaplan P, Nathanson K, Meyer J, et al. Multiple Vascular and Bowel Ruptures in an Adolescent Male with Sporadic Ehlers-Danlos Syndrome Type IV. 1999;2(1):86–93Busch A, Hoffjan S, Bergmann F, Hartung B, Jung H, Hanel D, et al. Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low Vitamin D serum concentration. Orphanet J Rare Dis [Internet]. 2016;11(1)Sentongo T, Lichtenstein G, Nathanson K, Kaplan P, Maller E. Intestinal Perforation in Ehlers-Danlos Syndrome After Enema Treatment for Constipation. 1998;27(5):599–602Rossi P, Scher L, Friedman S, Hall M, Boxer R, Bialer M. Subclavian artery pseudoaneurysm in type IV Ehlers-Danlos Syndrome. 1998;27(3):549–51Chuman H, Trobe JD, Petty EM, Schwarze U, Pepin M, Byers PH, et al. Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature. J Neuroophthalmol. 2002 Jun;22(2):75–81Mackay K, Raghunath M, Superti-Furga A, Steinmann B, Dalgleish R. Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation. 1996;49(6):286–95Wan T, Ye J, Wu P, Cheng M, Jiang B, Wang H, et al. Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report. BMC Pulm Med. 2020 May;20(1):149Adham S, Trystram D, Albuisson J, Domigo V, Legrand A, Jeunemaitre X, et al. Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: A retrospective cohort and comprehensive review. Orphanet J Rare Dis [Internet]. 2018;13(1)Lan NSR, Fietz M, Pachter N, Paul V, Playford D. A case of vascular Ehlers-Danlos Syndrome with a cardiomyopathy and multi-system involvement. Cardiovasc Pathol. 2018;35:48–51Shalhub S, Byers PH, Hicks KL, Charlton-Ouw K, Zarkowsky D, Coleman DM, et al. A multi-institutional experience in the aortic and arterial pathology in individuals with genetically confirmed vascular Ehlers-Danlos syndrome. J Vasc Surg. 2019 Nov;70(5):1543–54Aydiner O, Hancer VS. A Novel COL3A1 c.2644G>T; p.(Gly882Cys) Variant in a Turkish Family with Vascular Ehlers-Danlos Syndrome. Mol Syndromol. 2020;11(2):110–4Ellis RJB, Salehin M, Zhou R, Somauroo M. Type IV Ehlers-Danlos syndrome presenting as recurrent, bilateral carotid dissections. BMJ Case Rep. 2012;2012(101526291)Morissette R, Schoenhoff F, Xu Z, Shilane DA, Griswold BF, Chen W, et al. Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome. Circ Cardiovasc Genet. 2014 Feb;7(1):80–8Rana M, Aziz O, Purkayastha S, Lloyd J, Wolfe J, Ziprin P. Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature. J Med Case Rep. 2011;5(101293382):229Rebelo M, Ramos L, Lima J, Vieira JD, Tavares P, Teixeira L, et al. Ehlers-Danlos syndrome type IV in association with a (c.970G>A) mutation in the COL3A1 gene. Acta Med Port. 2011;24(6):1079–86Lee ST, Kim JA, Jang SY, Kim DK, Kim JW, Ki CS. A novel COL3A1 gene mutation in patient with aortic dissected aneurysm and cervical artery dissections. Heart Vessels. 2008;23(2):144–8Blaker H, Funke B, Hausser I, Hackert T, Schirmacher P, Autschbach F. Pathology of the large intestine in patients with vascular type Ehlers-Danlos syndrome. Virchows Arch. 2007;450(6):713–7Demirogullari B, Karabulut R, Demirtola A, Karabulut B, Gol IH, Aybay C, et al. A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations. J Pediatr Surg. 2006 Aug;41(8):e27-30Nanduri R, Jones E, Miller-Hance W, Lewis A, Morris S. Intraperitoneal bladder rupture in a young child with vascular Ehlers-Danlos syndrome. Am J Med Genet A. 2021 Mar;185(3):841-844Zemrani B, McLeod E, Rogers E, Lawrence J, Feldman D, Evans V, et al. Vascular Ehlers-Danlos Syndrome: An Unusual Cause of Chronic Intestinal Failure in a Child. 2019;68(1):e14–5Berezowska S, Christe A, Bartholdi D, Koch M, von Garnier C. Pulmonary Fibrous Nodule with Ossifications May Indicate Vascular Ehlers-Danlos Syndrome with Missense Mutation in COL3A1. Am J Respir Crit Care Med. 2018 Mar;197(5):661–2Gu G, Yang H, Cui L, Fu Y, Li F, Zhou Z, et al. Vascular Ehlers-Danlos Syndrome With a Novel Missense COL3A1 Mutation Present With Pulmonary Complications and Iliac Arterial Dissection. Vasc Endovascular Surg. 2018 Feb;52(2):138–42Deng Y, Wei S, Hu S, Chen J, Tan Z, Yang Y. Ehlers-Danlos syndrome type IV is associated with a novel G984R COL3A1 mutation. Mol Med Rep. 2015 Jul;12(1):1119–24Batagini N, Gornik H, Kirksey L. Spontaneous Splenic Rupture in Vascular Ehlers-Danlos Syndrome. 2015;49(5):152–4Baas AF, Spiering W, Moll FL, Page-Christiaens L, Beenakkers ICM, Dooijes D, et al. Six uneventful pregnancy outcomes in an extended vascular Ehlers-Danlos syndrome family. Am J Med Genet A. 2017 Feb;173(2):519–23He F, Wang X, Cai X, Peng H, Zhang L, Zhu T, et al. Novel missense mutation in the COL3A1 gene caused vascular Ehlers-Danlos syndrome in a Chinese family. J Dermatol. 2015 Jan;42(1):95-6Wheeler S, Russo M, Wilson-Murphy M, Shen W. Gynecologic and Surgical Complications in Type IV Ehlers-Danlos Syndrome. 2014;123(2):431–3Verbert A, Verbist J, Peeters P, Deferm H, Haenen L. Spontaneous Rupture of an Aneurysm of the Right Subclavian Artery as a First Presentation of Ehlers Danlos Syndrome in a 15-year Old Boy. 2013;2013(5):367–72Masuno M, Watanabe A, Naing BT, Shimada T, Fujimoto W, Ninomiya S, et al. Ehlers-Danlos syndrome, vascular type: a novel missense mutation in the COL3A1 gene. Congenit Anom (Kyoto). 2012 Dec;52(4):207–10Colebatch AN, Shaw EC, Foulds NC, Davidson BKS. Hemorrhagic bullae of the oral mucosa as an early manifestation of vascular-type ehlers-danlos syndrome. J Clin Rheumatol. 2011 Oct;17(7):383–4Shields L, Rolf C, Davis G, Hunsaker J. Sudden and Unexpected Death in Three Cases of Ehlers-Danlos Syndrome Type IV. 2010;55(6):1641–5Barboi A, Dennis C, Timins M, Peltier W, Klotz CM, Jaradeh S. Neuromuscular manifestations in a patient with ehlers-danlos syndrome type IV. J Clin Neuromuscul Dis. 2009 Dec;11(2):81–7Ohkuchi A, Matsubara S, Takahashi K, Inoue S, Saito T, Mitsuhashi T, et al. Ehlers-Danlos type IV in pregnancy with a history of myocardial infarction. J Obstet Gynaecol Res. 2009 Aug;35(4):797-800Lipinski MJ, Lipinski SE, Kripalani S, Friesen LD, Uthlaut BS, Braddock SR. An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management. Am J Med Genet A. 2009 Feb;149A(4):698–701Palmeri S, Mari F, Meloni I, Malandrini A, Ariani F, Villanova M, et al. Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism. Clin Genet. 2003 Jun;63(6):510–5Johnson PH, Richards AJ, Lloyd JC, Pope FM, Hopkinson DA. Efficient strategy for the detection of mutations in acrogeric Ehlers-Danlos syndrome type IV. Hum Mutat. 1995;6(4):336–42Kroes HY, Pals G, van Essen AJ. Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. Clin Genet. 2003 Mar;63(3):224–7McGrory J, Weksberg R, Thorner P, Cole W. Abnormal extracellular matrix in Ehlers-Danlos syndrome type IV due to the substitution of glycine 934 by glutamic acid in the triple helical domain of type III collagen. Clin Genet. 1996 Dec;50(6):442-5Hassan I, Rasmussen TE, Schwarze U, Rose PS, Whiteman DAH, Gloviczki P. Ehlers-Danlos syndrome type IV and a novel mutation of the type III procollagen gene as a cause of abdominal apoplexy. Mayo Clin Proc. 2002 Aug;77(8):861-3Jansen T, de Paepe A, Nuytinck L, Altmeyer P. Acrogeric phenotype in Ehlers-Danlos syndrome type IV attributed to a missense mutation in the COL3A1 gene. 2001;144(5):1086–7Nishiyama Y, Nejima J, Watanabe A, Kotani E, Sakai N, Hatamochi A, et al. Ehlers-Danlos syndrome type IV with a unique point mutation in COL3A1 and familial phenotype of myocardial infarction without organic coronary stenosis. J Intern Med. 2001 Jan;249(1):103-8Sakai K, Toda M, Kyoyama H, Nishimura H, Kojima A, Kuwabara Y, et al. Vascular Ehlers-Danlos Syndrome with a Novel Missense Mutation in COL3A1: A Man in His 50s with Aortic Dissection after Interventional Treatment for Hemothorax as the First Manifestation. Intern Med. 2019 Dec;58(23):3441–7da Rocha de Sousa F, Colucci N, Dupuis A, Toso C, Buchs NC, Abbassi Z. Surgical management of vascular Ehlers-Danlos syndrome and its challenges: a case report. Swiss Med Wkly. 2020;150:w20379Kakinuma D, Yamada T, Kanazawa Y, Matsuno K, Sahara T, Yoshida H. A case of vascular Ehlers-Danlos syndrome with a ruptured hepatic artery after surgical treatment of peritonitis caused by the perforation of the colon. Surg Case Rep. 2021;7(1):74McKenna C, Vandersteen A, Wakeling E, Pope FM, Ghali N. Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn. Clin Dysmorphol. 2017 Jan;26(1):50–7Kamalanathan KC, Barnacle AM, Holbrook C, Rees C. Splenic Rupture Secondary to Vascular Ehlers-Danlos Syndrome Managed by Coil Embolization of the Splenic Artery. European J Pediatr Surg Rep. 2019;7(1):e83–5Carter J, Fenves AZ. Understanding vascular-type Ehlers-Danlos syndrome and avoiding vascular complications. Proc (Bayl Univ Med Cent). 2017;30(1):52–3Cortini F, Marinelli B, Seia M, de Giorgio B, Pesatori AC, Montano N, et al. Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report. J Med Case Rep. 2016 Oct;10(1):303Nakagawa H, Wada H, Hajiro T, Nagao T, Ogawa E, Hatamochi A, et al. Ehlers-Danlos Syndrome Type IV with Bilateral Pneumothorax. Intern Med. 2015;54(24):3181–4Makrygiannis G, Loeys B, Defraigne JO, Sakalihasan N. Cervical artery dissections and type A aortic dissection in a family with a novel missense COL3A1 mutation of vascular type Ehlers-Danlos syndrome. Eur J Med Genet. 2015 Nov;58(11):634–6Jorgensen A, Fagerheim T, Rand-Hendriksen S, Lunde PI, Vorren TO, Pepin MG, et al. Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family. Eur J Hum Genet. 2015;23(6):796–802Geake JB, Ritchey DM, Burke J, Halliday A, Wood-Baker R, Maguire G. Sudden death in a young male with a recent pneumothorax: a case report. Eur Respir Rev. 2014 Mar 1;23(131):145-7Girardin M, Puzenat E, Humbert P, Aubin F. Bilateral spontaneous carotid-cavernous fistula revealing Ehler-Danlos disease. Ann Dermatol Venereol. 2013 Apr;140(4):296–9Sa YJ, Kim Y du, Moon SW, Kim CK, Ki CS. Occlusive vascular Ehlers-Danlos syndrome accompanying a congenital cystic adenomatoid malformation of the lung: report of a case. Surg Today. 2013 Dec;43(12):1467–9Yoneda A, Okada K, Okubo H, Matsuo M, Kishikawa H, Naing BT, et al. Spontaneous colon perforations associated with a vascular type of ehlers-danlos syndrome. Case Rep Gastroenterol. 2014;8(2):175–81Kashizaki F, Hatamochi A, Kamiya K, Yoshizu A, Okamoto H. Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report. J Med Case Rep. 2013;7(101293382):35Dar RA, Wani SH, Mushtaque M, Kasana RA. Spontaneous hemo-pneumothorax in a patient with Ehlers-Danlos syndrome. Gen Thorac Cardiovasc Surg. 2012 Sep;60(9):587–9Singh M, Puppala S, Pollitt RC, Sobey GJ, Scott DJA. Femoral artery dissection in vascular type Ehlers-Danlos syndrome; leave well alone?. Eur J Vasc Endovasc Surg. 2012;43(3):341–2Ohyama Y, Iso T, Nino ACV, Obokata M, Takahashi R, Okumura W, et al. Multiple spontaneous coronary artery ruptures and cardiac tamponade in vascular Ehlers-Danlos syndrome. J Cardiol Cases. 2011;3(1):e29–32Morais P, Mota A, Eloy C, Lopes JM, Torres F, Palmeiro A, et al. Vascular Ehlers-Danlos syndrome: a case with fatal outcome. Dermatol Online J. 2011 Apr;17(4):1Sadakata R, Hatamochi A, Kodama K, Kaga A, Yamaguchi T, Soma T, et al. Ehlers-Danlos syndrome type IV, vascular type, which demonstrated a novel point mutation in the COL3A1 gene. Intern Med. 2010;49(16):1797–800Nakamura M, Yajima J, Oikawa Y, Ogasawara K, Uejima T, Abe K, et al. Vascular Ehlers-Danlos syndrome--all three coronary artery spontaneous dissections. J Cardiol. 2009 Jun;53(3):458–62Ishiguro T, Takayanagi N, Kawabata Y, Matsushima H, Yoshii Y, Harasawa K, et al. Ehlers-Danlos syndrome with recurrent spontaneous pneumothoraces and cavitary lesion on chest X-ray as the initial complications. Intern Med. 2009;48(9):717–22van Bon AC, Kristinsson JO, van Krieken JHJM, Wanten GJ. Concurrent splenic peliosis and vascular Ehlers-Danlos syndrome. Ann Vasc Surg. 2009 Mar;23(2):256.e1-4Yang JH, Lee ST, Kim JA, Kim SH, Jang SY, Ki CS, et al. Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV. J Korean Med Sci. 2007 Aug;22(4):698–705Watanabe A, Kosho T, Wada T, Sakai N, Fujimoto M, Fukushima Y, et al. Genetic aspects of the vascular type of Ehlers-Danlos syndrome (vEDS, EDSIV) in Japan. Circ J. 2007 Feb;71(2):261–5Watanabe A, Kawabata Y, Okada O, Tanabe N, Kimura H, Hatamochi A, et al. Ehlers-Danlos syndrome type IV with few extrathoracic findings: a newly recognized point mutation in the COL3A1 gene. Eur Respir J. 2002 Jan;19(1):195–8Tromp G, de Paepe A, Nuytinck L, Madhatheri S, Kuivaniemi H. Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV. Hum Mutat. 1995;5(2):179–81Nuytinck L, de Paepe A, Renard JP, Adriaens F, Leroy J. Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV. Hum Mutat. 1994;3(3):268–74Madhatheri SL, Tromp G, Gustavson KH, Kuivaniemi H. Substitution of glutamic acid for glycine 589 in the triple-helical domain of type III procollagen (COL3A1) in a family with variable phenotype of the Ehlers-Danlos syndrome type IV. Hum Mol Genet. 1994;3(3):511–2Richards A, Narcisi P, Lloyd J, Ferguson C, Pope FM. The substitution of glycine 661 by arginine in type III collagen produces mutant molecules with different thermal stabilities and causes Ehlers-Danlos syndrome type IV. J Med Genet. 1993;30(8):690–3Narcisi P, Wu Y, Tromp G, Earley JJ, Richards AJ, Pope FM, et al. Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers-Danlos syndrome type IV. Am J Med Genet. 1993;46(3):278–83Nuytinck L, Narcisi P, Nicholls A, Renard JP, Pope FM, de Paepe A. Detection and characterisation of an overmodified type III collagen by analysis of non-cutaneous connective tissues in a patient with Ehlers-Danlos syndrome IV. J Med Genet. 1992;29(6):375–80Kontusaari S, Tromp G, Kuivaniemi H, Stolle C, Pope FM, Prockop DJ. Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. Am J Hum Genet. 1992;51(3):497–507Johnson PH, Richards AJ, Pope FM, Hopkinson DA. A COL3A1 glycine 1006 to glutamic acid substitution in a patient with Ehlers-Danlos syndrome type IV detected by denaturing gradient gel electrophoresis. J Inherit Metab Dis. 1992;15(3):426–30Richards AJ, Ward PN, Narcisi P, Nicholls AC, Lloyd JC, Pope FM. A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation. Hum Genet. 1992;89(4):414–8Richards AJ, Lloyd JC, Ward PN, de Paepe A, Narcisi P, Pope FM. Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IV. J Med Genet. 1991;28(7):458–63Bateman JF, Chiodo AA, Weng YM, Chan D, Haan E. A type III collagen Gly559 to Arg helix mutation in Ehler’s-Danlos syndrome type IV. Hum Mutat. 1998;S257-9McGrory J, Costa T, Cole WG. A novel G499D substitution in the alpha 1(III) chain of type III collagen produces variable forms of Ehlers-Danlos syndrome type IV. Hum Mutat. 1996;7(1):59–60Tromp G, Kuivaniemi H, Stolle C, Pope FM, Prockop DJ. Single base mutation in the type III procollagen gene that converts the codon for glycine 883 to aspartate in a mild variant of Ehlers-Danlos syndrome IV. J Biol Chem. 1989;264(32):19313–7Shimaoka Y, Kosho T, Wataya-Kaneda M, Funakoshi M, Suzuki T, Hayashi S, et al. Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome. Br J Dermatol. 2010 Oct;163(4):704–10Malvido García A, Pantoja Garrido M, Frías Sánchez Z. Muerte materna por shock hemorrágico en gestante con síndrome de Ehlers-Danlos vascular tipo IV [Internet]. Clínica e Investigación en Ginecología y Obstetricia 2018;45(2):78–81Cortini F, Marinelli B, Romi S, Seresini A, Pesatori AC, Seia M, et al. A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family. Vasc Endovascular Surg. 2017 Apr;51(3):141–5Rocci A, Paganelli E, Rossetti A, Marcato C, Martorana D, Tassoni MI, et al. Multiple contemporary arterial dissection in Ehlers-Danlos syndrome type IV. Ital J Med [Internet]. 2015;9(1):77–81.Ananth AL, Yang Y, Lalani SR, Lotze TB. An unusual cause of peroneal neuropathy. Semin Pediatr Neurol [Internet]. 2014;21(2):77–81Nanayakkara PWB, van Bunderen CC, Simsek S, Smulders YM, Pals G. Vascular type of Ehlers-Danlos syndrome in a patient with a ruptured aneurysm of the splenic artery. Neth J Med [Internet]. 2006;64(10):374–6Stembridge NS, Vandersteen AM, Ghali N, Sawle P, Nesbitt M, Pollitt RC, et al. Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene. Am J Med Genet A. 2015 Aug;167A(8):1763–72Zhang W, Han Q, Zhou M, Ran F, Qiao T, Yi L, et al. Identification of a missense mutation of COL3A1 in a Chinese family with atypical Ehlers-Danlos syndrome using targeted next-generation sequencing. Mol Med Rep. 2017 Feb;15(2):936–40Ghali N, Baker D, Brady AF, Burrows N, Cervi E, Cilliers D, et al. Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility. Genet Med. 2019 Sep;21(9):2081–91Yokoi T, Enomoto Y, Tsurusaki Y, Kurosawa K. Siblings with vascular Ehlers-Danlos syndrome inherited via maternal mosaicism. Congenit Anom (Kyoto). 2021 May;61(3):101-102Tokue M, Hara H, Kurosawa K, Nakamura M. Fulminant myocardial bleeding: another clinical course of vascular Ehlers-Danlos Syndrome. BMJ Case Rep. 2017 Sep 23;2017:bcr2017220786Samaraweera APR, Laverse E, Henderson A. Pearls & Oy-sters: Vascular EDS presenting with acute proptosis: Always revisit the history. Neurology. 2016 Jul;87(4):e36-8Hampole C, Philip F, Shafii A, Pettersson G, MD P, Anesi G, et al. Spontaneous Coronary Artery Dissection in Ehlers-Danlos Syndrome. 2011;92(5):1883–4Neelam M, Charles-Holmes R, Pope F. Venous blebs on the toes in type IV Ehlers-Danlos syndrome. Br J Dermatol. 1999 Mar;140(3):543-4Alvarez K, Jordi L, Jose Angel H. Hemothorax in vascular Ehlers-Danlos syndrome. Hemotorax en sindrome de Ehlers-Danlos tipo vascular. Reumatol Clin (Engl Ed). 2019 Nov-Dec;15(6):e128-e129.Konieczynska M, Wypasek E, Karpinski M, Komar M, Symoens S, Coucke PJ, et al. Vascular Ehlers-Danlos syndrome in 2 Polish patients: identification of 2 novel COL3A1 gene mutations. Kardiol Pol. 2019;77(11):1070–3Chen MJ, Li HF, Mao S. Trigeminal Autonomic Cephalalgias Manifested As The Only Initial Symptom Of Ehlers-Danlos Syndrome Type IV. J Pain Res. 2019;12(101540514):3215–20Wendorff H, Pelisek J, Zimmermann A, Mayer K, Seidel H, Weirich G, et al. Early venous manifestation of Ehlers-Danlos syndrome Type IV through a novel mutation in COL3A1. Cardiovasc Pathol. 2013;22(6):488–92Burk CJ, Aber C, Connelly EA. Ehlers-Danlos syndrome type IV: keloidal plaques of the lower extremities, amniotic band limb deformity, and a new mutation. J Am Acad Dermatol. 2007 Feb;56(2 Suppl):S53-4Fuchs JR, Fishman SJ. Management of spontaneous colonic perforation in Ehlers-Danlos syndrome type IV. J Pediatr Surg. 2004 Feb;39(2):e1-3Thakker-Varia S, Anderson DW, Kuivaniemi H, Tromp G, Shin HG, van der Rest M, et al. Aberrant splicing of the type III procollagen mRNA leads to intracellular degradation of the protein in a patient with Ehlers-Danlos type IV. Hum Mutat. 1995;6(2):116–25Sillence DO, Chiodo AA, Campbell PE, Cole WG. Ehlers-Danlos syndrome type IV: phenotypic consequences of a splicing mutation in one COL3A1 allele. J Med Genet. 1991;28(12):840–5Kim MJ, Choe J, Lee BH, Song JW. Ehlers–Danlos syndrome presenting as cystic lung disease with recurrent pneumothorax: a case report. Respirology Case Rep [Internet]. 2021;9(5)Schwarze U, Goldstein JA, Byers PH. Splicing defects in the COL3A1 gene: marked preference for 5’ (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV. Am J Hum Genet. 1997;61(6):1276–86Park MA, Shin SY, Kim YJ, Park MJ, Lee SH. Vascular Ehlers-Danlos syndrome with cryptorchidism, recurrent pneumothorax, and pulmonary capillary hemangiomatosis-like foci: A case report. Medicine. 2017 Nov;96(47):e8853Foulkes A, Pollitt R, Sobey G, Pope F, Taylor A. Palmoplantar contractures in childhood: a rare complication of vascular Ehlers-Danlos syndrome. 2013;38(5):517–9Shimaoka Y, Hayashi S, Hamasaki Y, Terui K, Hatamochi A. Patient with the vascular type of Ehlers-Danlos syndrome, with a novel point-mutation in the COL3A1 gene. Vol. 40, The Journal of dermatology. England; 2013. p. 226–8Okamoto O, Ando T, Watanabe A, Sato F, Mimata H, Shimada T, et al. A novel point mutation in type III collagen gene resulting in exon 24 skipping in a case of vascular type Ehlers-Danlos syndrome. Arch Dermatol Res. 2008 Oct;300(9):525–9Pinto Y, Pals G, Zijlstra J, Tulleken J. Ehlers-Danlos Syndrome Type IV. N Engl J Med. 2000 Aug 3;343(5):366-8Koitabashi N, Yamaguchi T, Fukui D, Nakano T, Umeyama A, Toda K, et al. Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing. Int Heart J. 2018 Sep;59(5):1180–5Omori H, Hatamochi A, Koike M, Sato Y, Kosho T, Kitakado Y, et al. Sigmoid colon perforation induced by the vascular type of Ehlers-Danlos syndrome: report of a case. Surg Today. 2011;41(5):733–6Kuivaniemi H, Tromp G, Bergfeld WF, Kay M, Helm TN. Ehlers-Danlos syndrome type IV: a single base substitution of the last nucleotide of exon 34 in COL3A1 leads to exon skipping. J Invest Dermatol. 1995;105(3):352–6Chiodo AA, Sillence DO, Cole WG, Bateman JF. Abnormal type III collagen produced by an exon-17-skipping mutation of the COL3A1 gene in Ehlers-Danlos syndrome type IV is not incorporated into the extracellular matrix. Biochem J. 1995;311(9):939–43Richards AJ, Narcisi P, Ferguson C, Cobben JM, Pope FM. Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers-Danlos syndrome type IV. Hum Mol Genet. 1994;3(10):1901–2Lloyd J, Narcisi P, Richards A, Pope FM. A T+6 to C+6 mutation in the donor splice site of COL3A1 IVS7 causes exon skipping and results in Ehlers-Danlos syndrome type IV. J Med Genet. 1993;30(5):376–80Kuivaniemi H, Kontusaari S, Tromp G, Zhao MJ, Sabol C, Prockop DJ. Identical G+1 to A mutations in three different introns of the type III procollagen gene (COL3A1) produce different patterns of RNA splicing in three variants of Ehlers-Danlos syndrome. IV. An explanation for exon skipping some mutations and not others. J Biol Chem. 1990;265(20):12067–74Cole WG, Chiodo AA, Lamande SR, Janeczko R, Ramirez F, Dahl HH, et al. A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. J Biol Chem. 1990;265(28):17070–7Lee B, Vitale E, Superti-Furga A, Steinmann B, Ramirez F. G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. J Biol Chem. 1991;266(8):5256–9Park KY, Gill KG, Kohler JE. Intestinal perforation in children as an important differential diagnosis of vascular ehlers-danlos syndrome. Am J Case Rep [Internet]. 2019;20:1057–62Hayashi S, Lin W, Hamasaki Y, Igawa K. Vascular Ehlers-Danlos syndrome patient with a novel COL3A1 gene deletion mutation without alteration in the triple sequence of (Gly-X-Y) repeat. J Dermatol. 2020 Nov;47(11):e390-e391Okita H, Ikeda Y, Mitsuhashi Y, Namikawa H, Kitamura Y, Hamasaki Y, et al. A novel point mutation at donor splice-site in intron 42 of type III collagen gene resulting in the inclusion of 30 nucleotides into the mature mRNA in a case of vascular type of Ehlers-Danlos syndrome. Arch Dermatol Res. 2010 Jul;302(5):395–9Guven S, Kule O, Gules D, Okumus H, Oruc M, Celbis O. Sudden death as a result of colon perforation; Ehlers-Danlos type IV case with postmortem diagnosis. J Forensic Leg Med. 2020;73(101300022):101969Pimenta I, Varudo R, Castelao F, Gonzalez FA. Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage. BMJ Case Rep. 2021;14(7)Milewicz DM, Witz AM, Smith AC, Manchester DK, Waldstein G, Byers PH. Parental somatic and germ-line mosaicism for a multiexon deletion with unusual endpoints in a type III collagen (COL3A1) allele produces Ehlers-Danlos syndrome type IV in the heterozygous offspring. Am J Hum Genet. 1993;53(1):62–70Richards AJ, Lloyd JC, Narcisi P, Ward PN, Nicholls AC, de Paepe A, et al. A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IV. Hum Genet. 1992;88(3):325–30Lee B, D’Alessio M, Vissing H, Ramirez F, Steinmann B, Superti-Furga A. Characterization of a large deletion associated with a polymorphic block of repeated dinucleotides in the type III procollagen gene (COL3A1) of a patient with Ehlers-Danlos syndrome type IV. Am J Hum Genet. 1991;48(3):511–7Superti-Furga A, Gugler E, Gitzelmann R, Steinmann B. Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. J Biol Chem. 1988;263(13):6226–32Mendonça Almeida L, Sousa C, Vilares Morgado P, Fernandes P, Amado J, Paiva JA, et al. Massive Pulmonary Thrombosis Following Haemoptysis in Type IV Ehlers–Danlos Syndrome. Trombosis pulmonar masiva tras hemoptisis en el Síndrome de Ehlers–Danlos tipo IV [Internet]. Arch. bronconeumol. (Ed. impr.). 2021;57(4):309–11Medvecz M, Fekete G, Mayer B, Kárpá ti S. Genotype-phenotype correlation in vascular Ehlers-Danlos syndrome: Novel duplication mutation of COL3A1 gene in a large pedigree. J Invest Dermatol Symp Proc [Internet]. 2017;137(10):S232Vissing H, D’Alessio M, Lee B, Ramirez F, Byers PH, Steinmann B, et al. Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV. J Biol Chem [Internet]. 1991;266(8):5244–8Seve P, Dubreuil O, Farhat F, Plauchu H, Touboul P, Broussolle C. Acute mitral regurgitation caused by papillary muscle rupture in the immediate postpartum period revealing Ehlers-Danlos syndrome type IV. J Thorac Cardiovasc Surg. 2005;129(3):680–1Olson SL, Murray ML, Skeik N. A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome. Ann Vasc Surg. 2019 Nov;61:472.e9-472.e13Yagyu T, Ida K, Noguchi T, Yasuda S. Multiple Arterial Dissections in a Patient With Vascular Ehlers-Danlos Syndrome Caused by a Frameshift Mutation in COL3A1. Circ J. 2019 Oct;83(11):2324Naing BT, Watanabe A, Tanigaki S, Ono M, Iwashita M, Shimada T. Presymptomatic genetic analysis during pregnancy for vascular type Ehlers-Danlos syndrome. Int Med Case Rep J. 2014;7(101566269):99–102Plancke A, Holder-Espinasse M, Rigau V, Manouvrier S, Claustres M, Khau Van Kien P. Homozygosity for a null allele of COL3A1 results in recessive Ehlers-Danlos syndrome. Eur J Hum Genet. 2009 Nov;17(11):1411–6Dohle C, Baehring JM. Multiple strokes and bilateral carotid dissections: A fulminant case of newly diagnosed Ehlers-Danlos Syndrome Type IV. J Neurol Sci [Internet]. 2012;318(1):168–70Frank M, Adham S, Zinzindohoué F, Jeunemaitre X. Natural history of gastrointestinal manifestations in vascular Ehlers-Danlos syndrome: A 17-year retrospective review. J Gastroenterol Hepatol. 2019 May;34(5):857–63Boussouar S, Benattia A, Escudie JB, Gibault L, Capron F, Legrand A, et al. Vascular Ehlers-Danlos syndrome (vEDS): CT and histologic findings of pleural and lung parenchymal damage. Eur Radiol. 2021;31(8):6275–85Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, et al. Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome. Genet Med. 2019 Jul;21(7):1568–75Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, et al. The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. Eur J Hum Genet. 2015 Dec;23(12):1657–64Shalhub S, Black JH 3rd, Cecchi AC, Xu Z, Griswold BF, Safi HJ, et al. Molecular diagnosis in vascular Ehlers-Danlos syndrome predicts pattern of arterial involvement and outcomes. J Vasc Surg. 2014 Jul;60(1):160–9Leistritz DF, Pepin MG, Schwarze U, Byers PH. COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy. Genet Med. 2011 Aug;13(8):717–22Pepin M, Schwarze U, Superti-Furga A, Byers P. Clinical and Genetic Features of Ehlers-Danlos Syndrome Type IV, the Vascular Type. N Engl J Med. 2000 Mar 9;342(10):673-80Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH. Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). Genet Med. 2014 Dec;16(12):881–8Murray ML, Pepin M, Peterson S, Byers PH. Pregnancy-related deaths and complications in women with vascular Ehlers-Danlos syndrome. Gen Med [Internet]. 2014;16(12):874–80Mitchell AL, Schwarze U, Jennings JF, Byers PH. Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS). Hum Mutat. 2009 Jun;30(6):995–1002Malfait F, Symoens S, De Backer J, Hermanns-Lê T, Sakalihasan N, Lapière CM, et al. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood. Hum Mutat. 2007 Apr;28(4):387–95Lu Y, Zhang S, Wang Y, Ren X, Han J. Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen. Intractable Rare Dis Res. 2019;8(2):98–107Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH. The Ehlers–Danlos syndromes. Nat Rev Disease Prim [Internet]. 2020;6(1)Connizzo B, Freedman B, Fried J, Sun M, Birk D, Soslowsky L. Regulatory role of collagen V in establishing mechanical properties of tendons and ligaments is tissue dependent. J Orthop Res. 2015 Jun;33(6):882-8Malfait F, De Paepe A. Molecular genetics in classic Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2005 Nov;139C(1):17–23Malfait F, Wenstrup RJ, De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med. 2010 Oct;12(10):597–605Malfait F, Wenstrup R, De Paepe A. Classic Ehlers-Danlos Syndrome. 2007 May 29 [updated 2018 Jul 26]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023Pallotta R, Ehresmann T, Fusilli P, De Paepe A, Nuytinck L. Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers-Danlos syndrome [3]. Am J Med Genet [Internet]. 2004;128(4):436–8Beighton P, de Paepe A, Danks D, Finidori G, Gedde-Dahl T, Goodman R, et al. International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet. 1988 Mar;29(3):581–94Zainal A, Hamad M, Naqvi S. Dilated aortic root and severe aortic regurgitation causing dilated cardiomyopathy in classic Ehlers-Danlos syndrome. BMJ Case Rep. 2016 Jul 13;2016:bcr2016215943Mehta S, Dhar SU, Birnbaum Y. Common iliac artery aneurysm and spontaneous dissection with contralateral iatrogenic common iliac artery dissection in classic ehlers-danlos syndrome. Int J Angiol. 2012;21(3):167–70de Leeuw K, Goorhuis J, Tielliu I, Symoens S, Malfait F, de Paepe A, et al. Superior Mesenteric Artery Aneurysm in a 9-Year-Old Boy With Classical Ehlers-Danlos Syndrome. Am J Med Genet A. 2012 Mar;158A(3):626-9De Paepe A, Malfait F. Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. Br J Haematol. 2004 Dec;127(5):491–500Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8–26Adham S, Dupuis-Girod S, Charpentier E, Mazzella JM, Jeunemaitre X, Legrand A. Classical Ehlers-Danlos syndrome with a propensity to arterial events: A new report on a French family with a COL1A1 p.(Arg312Cys) variant. Clin Genet. 2020 Feb;97(2):357–61Gong Z, Wang H, Lin Z. Glycine substitution mutation of COL5A1 in classic Ehlers-Danlos syndrome: a case report and literature review. Clin Exp Dermatol. 2021 Jul;46(5):987-989Angwin C, Brady A, Pope F, Vandersteen A, Baker D, Cheema H, et al. Arterial complications in classical Ehlers-Danlos syndrome: a case series. J Med Genet. 2020 Nov;57(11):769-776Xu X, Wang Z, Zan T. A case of Ehlers-Danlos syndrome presenting with widened atrophic scars of forehead, elbow, knee, and pretibial area: A case report. Medicine (Baltimore). 2019 Sep;98(37):e17138Monroe GR, Harakalova M, van der Crabben SN, Majoor-Krakauer D, Bertoli-Avella AM, Moll FL, et al. Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1. Am J Med Genet A. 2015 Jun;167(6):1196–203Colombi M, Dordoni C, Venturini M, Zanca A, Calzavara-Pinton P, Ritelli M. Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review. Am J Med Genet A. 2017 Feb;173(2):524–30Symoens S, Malfait F, Renard M, André J, Hausser I, Loeys B, et al. COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome. Hum Mutat. 2009 Feb;30(2):E395-403Hermanns-Le, Piérard GE. Multifaceted Dermal Ultrastructural Clues for Ehlers-Danlos Syndrome with Arterial Rupture and Type I Collagen R-to-C Substitution. Am J Dermatopathol. 2007 Oct;29(5):449-51Richards A, Martin S, Nicholls A, Harrison J, Pope F, Burrows N. A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. J Med Genet. 1998 Oct;35(10):846-8Duong J, Rideout A, MacKay S, Beis J, Parkash S, Schwarze U, et al. A family with Classical Ehlers-Danlos Syndrome (cEDS), mild bone fragility and without vascular complications, caused by the p.Arg312Cys mutation in COL1A1. Eur J Med Genet. 2020 Feb;63(2):103730Chiarelli N, Carini G, Zoppi N, Ritelli M, Colombi M. Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients’ skin fibroblasts. PLoS One. 2019;14(2):e0211647Almatrafi A, Hashmi JA, Fadhli F, Alharbi A, Afzal S, Ramzan K, et al. Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation. Glob Med Genet. 2020;7(4):109–12Butler MG. Classic Ehlers-Danlos syndrome and cardiac transplantation - Is there a connection?. World J Cardiol. 2020;12(8):368–72Errichiello E, Malara A, Grimod G, Avolio L, Balduini A, Zuffardi O. Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome. Eur J Med Genet. 2021;64(1):104099Junkiert-Czarnecka A, Pilarska-Deltow M, Bak A, Heise M, Haus O. New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome: analysis of nine cases. Postepy Dermatol Alergol. 2019;36(1):29–33Watanabe M, Nakagawa R, Naruto T, Kohmoto T, Suga KI, Goji A, et al. A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome. Hum Genome Var. 2016;3(101652445):16030Malfait F, Coucke P, Symoens S, Loeys B, Nuytinck L, De Paepe A. The molecular basis of classic Ehlers-Danlos syndrome: a comprehensive study of biochemical and molecular findings in 48 unrelated patients. Hum Mutat. 2005 Jan;25(1):28–37Giunta C, Nuytinck L, Raghunath M, Hausser I, De Paepe A, Steinmann B. Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. Am J Med Genet. 2002;109(4):284–90Nuytinck L, Freund M, Lagae L, Pierard GE, Hermanns-Le T, De Paepe A. Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. Am J Hum Genet. 2000;66(4):1398–402Giunta C, Steinmann B. Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability?. Am J Med Genet. 2000;90(1):72–9De Paepe A, Nuytinck L, Hausser I, Anton-Lamprecht I, Naeyaert JM. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. Am J Hum Genet. 1997;60(3):547–54Smith S, Mehta SG, Burrows N. A rare form of classical Ehlers-Danlos syndrome with arterial rupture. Br J Dermatol [Internet]. 2016;174(4):e28Alzahrani F, Alkeraye S, Alkuraya FS. The alternatively spliced exon of COL5A1 is mutated in autosomal recessive classical Ehlers-Danlos syndrome. Clin Genet. 2018 Apr;93(4):936-937Mao D, Mu Z, Yang Y, Cao L, Xu Q, Du J, et al. Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome. J Dermatol. 2018 Mar;45(3):370-371Ott HW, Perkhofer S, Coucke PJ, de Paepe A, Spannagl M. Identification of von Willebrand disease type 1 in a patient with Ehlers-Danlos syndrome classic type. Haemophilia. 2016 Jul;22(4):e309-11Borck G, Beighton P, Wilhelm C, Kohlhase J, Kubisch C. Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. Am J Med Genet A. 2010 Aug;152A(8):2090–3Chiu WC, Chen SH, Lo MC, Kuo YT. Classic Ehlers-Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1. BMC Pediatr. 2020;20(1):495Wardeh A, Jackson T, Nelson B, Ernst C, Theroux JF, Al-Hertani W, et al. Identification of a de novo case of COL5A1-related Ehlers-Danlos syndrome in an infant in the West Indies leading to improved targeted clinical care. Clin Case Rep. 2018;6(11):2256–61Morais P, Ferreira O, Magina S, Silva C, Leão M, Maia A, et al. Classic Ehlers-Danlos syndrome: case report and brief review of literature. Acta Dermatovenerol Croat. 2013;21(2):118–22Cortini F, Villa C, Marinelli B, Franchetti S, Seia M, Pesatori AC, et al. Ehlers-Danlos Syndrome classical type: A novel COL5A2 missense mutation with possible additive effect of a COL5A1 stop-gain mutation in a strongly correlated phenotype. Meta Gene [Internet]. 2018;18:132–6Mao D, Mu Z, Yang Y, Cao L, Xu Q, Du J et al. Novel COL5A1 mutation in a Chinese family with classic type of Ehlers-Danlos syndrome. J Dermatol. 2018 Mar;45(3):370-371Kiyohara T, Okubo Y, Yamaguchi M, Yozaki M, Usui F, Muto M, et al. COL5A1 gene mutation in three cases of classic type Ehlers-Danlos syndrome. J Dermatol Sci [Internet]. 2016;84(1):e144Nicholls A, Oliver J, McCarron S, Harrison J, Greenspan D, Pope F. An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. J Med Genet. 1996 Nov;33(11):940-6Angwin C, Brady AF, Colombi M, Ferguson DJP, Pollitt R, Pope FM, et al. Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients. Genes (Basel). 2019 Sep 27;10(10):762Colombi M, Dordoni C, Cinquina V, Venturini M, Ritelli M. A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing. Eur J Med Genet. 2018 Jan;61(1):17–20Symoens S, Malfait F, Vlummens P, Hermanns-Lê T, Syx D, De Paepe A. A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement. PLoS One. 2011;6(5):e20121Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H, Smith LT, et al. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. Am J Hum Genet. 2002 Sep;71(3):451–65Burrows NP, Nicholls AC, Richards AJ, Luccarini C, Harrison JB, Yates JR, et al. A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. Am J Hum Genet. 1998;63(2):390–8Michalickova K, Susic M, Willing MC, Wenstrup RJ, Cole WG. Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. Hum Mol Genet. 1998;7(2):249–55Ma N, Zhu Z, Liu J, Peng Y, Zhao X, Tang W, et al. Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2. Mol Genet Genomic Med [Internet]. 2021;9(5):e1632Morais P, Peralta L, Sousa S, Silva J. Ehlers-danlos syndrome: A diagnosis to be considered. J German Soc Dermatol [Internet]. 2014;12:23Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, et al. Evaluation of a patient with classical Ehlers-Danlos syndrome due to a 9q34 duplication affecting COL5A1. Congenit Anom (Kyoto). 2018 Nov;58(6):191-193Ritelli M, Cinquina V, Venturini M, Colombi M. Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing. Mol Genet Genomic Med. 2020;8(10):e1422Wenstrup RJ, Langland GT, Willing MC, D’Souza VN, Cole WG. A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). Hum Mol Genet. 1996;5(11):1733–6Savasta S, Verrotti A, Sparta MV, Foiadelli T, Villa MP, Parisi P. Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers-Danlos syndrome. Epilepsy Behav Case Rep. 2015;4(101614202):27–9Ritelli M, Venturini M, Cinquina V, Chiarelli N, Colombi M. Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives. Orphanet J Rare Dis. 2020;15(1):197Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, et al. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis. 2013 Apr;8:58Colman M, Syx D, De Wandele I, Dhooge T, Symoens S, Malfait F. Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome. Hum Mutat. 2021 Oct;42(10):1294-1306Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, et al. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat. 2012 Oct;33(10):1485–93Colombi M, Dordoni C, Venturini M, Ciaccio C, Morlino S, Chiarelli N, et al. Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers-Danlos syndrome patients. Clin Genet. 2017 Dec;92(6):624–31Aktar R, Peiris M, Fikree A, Cibert-Goton V, Walmsley M, Tough IR, et al. The extracellular matrix glycoprotein tenascin-X regulates peripheral sensory and motor neurones. J Physiol. 2018 Sep;596(17):4237–51Brady AF, Demirdas S, Fournel-Gigleux S, Ghali N, Giunta C, Kapferer-Seebacher I, et al. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115Brellier F, Tucker RP, Chiquet-Ehrismann R. Tenascins and their implications in diseases and tissue mechanics. Scand J Med Sci Sports. 2009 Aug;19(4):511–9Blackburn PR, Xu Z, Tumelty KE, Zhao RW, Monis WJ, Harris KG, et al. Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. Am J Hum Genet. 2018 Apr;102(4):696–705Hebebrand M, Vasileiou G, Krumbiegel M, Kraus C, Uebe S, Ekici AB, et al. A biallelic truncating AEBP1 variant causes connective tissue disorder in two siblings. Am J Med Genet A. 2019 Jan;179(1):50–6Syx D, De Wandele I, Symoens S, De Rycke R, Hougrand O, Voermans N, et al. Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome. Hum Mol Genet. 2019 Jun;28(11):1853–64Ritelli M, Cinquina V, Venturini M, Pezzaioli L, Formenti AM, Chiarelli N, et al. Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome. Genes (Basel). 2019 Feb;10(2)Sakiyama T, Kubo A, Sasaki T, Yamada T, Yabe N, Matsumoto K ichi, et al. Recurrent gastrointestinal perforation in a patient with Ehlers-Danlos syndrome due to tenascin-X deficiency. J Dermatol. 2015 May;42(5):511–4Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, et al. Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Clin Genet. 2017 Mar;91(3):411–25Chen W, Perritt AF, Morissette R, Dreiling JL, Bohn MF, Mallappa A, et al. Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia. Hum Mutat. 2016 Sep;37(9):893–7Merke DP, Chen W, Morissette R, Xu Z, Van Ryzin C, Sachdev V, et al. Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2013 Feb;98(2):E379-87Hendriks AGM, Voermans NC, Schalkwijk J, Hamel BC, van Rossum MM. Well-defined clinical presentation of Ehlers-Danlos syndrome in patients with tenascin-X deficiency: a report of four cases. Clin Dysmorphol. 2012 Jan;21(1):15–8Schalkwijk J, Zweers MC, Steijlen PM, Dean WB, Taylor G, van Vlijmen IM, et al. A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. N Engl J Med. 2001 Oct;345(16):1167–75Micale L, Guarnieri V, Augello B, Palumbo O, Agolini E, Sofia VM, et al. Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome. Genes (Basel). 2019 Nov;10(12)Rymen D, Ritelli M, Zoppi N, Cinquina V, Giunta C, Rohrbach M, et al. Clinical and Molecular Characterization of Classical-Like Ehlers-Danlos Syndrome Due to a Novel TNXB Variant. Genes (Basel). 2019 Oct;10(11)Watanabe S, Ito Y, Samura O, Nakano H, Sawamura D, Asahina A, et al. Novel gross deletion mutation c.-105_4042+498del in the TNXB gene in a Japanese woman with classical-like Ehlers-Danlos syndrome: A case of uneventful pregnancy and delivery. J Dermatol. 2021;48(5):e227–8Brisset M, Metay C, Carlier RY, Badosa C, Marques C, Schalkwijk J, et al. Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness. Neuromuscul Disord. 2020;30(10):833–8Kaufman CS, Butler MG. Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome. World J Med Genet. 2016;6(2):17–21Mirza N, Upadhyaya S, Mehta S, Malhotra S, Sibal A. Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the TNXB Gene. J Pediatr Genet [Internet]. 2021Wyrwoll M, Horvath J, Busche A, Müller-Hofstede C, Ruckert C, Wieacker P. Two novel mutations of Tenascin-X cause an autosomal-recessive subtype of Ehlers-Danlos-Syndrome. Med Genet [Internet]. 2018;30(1):180–1Kolli V, Kim H, Rao H, Lao Q, Gaynor A, Milner JD, et al. Measurement of serum tenascin-X in patients with congenital adrenal hyperplasia at risk for Ehlers-Danlos contiguous gene deletion syndrome CAH-X. BMC Res Notes. 2019 Oct;12(1):711Lao Q, Brookner B, Merke DP. High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia. J Mol Diagn. 2019 Sep;21(5):924–31Green C, Ghali N, Akilapa R, Angwin C, Baker D, Bartlett M, et al. Classical-like Ehlers-Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility. Genet Med. 2020;22(10):1576–82Marino R, Garrido NP, Ramirez P, Notaristéfano G, Moresco A, Touzon MS, et al. Ehlers-Danlos Syndrome: Molecular and Clinical Characterization of TNXA/TNXB Chimeras in Congenital Adrenal Hyperplasia. J Clin Endocrinol Metab [Internet]. 2021;106(7):e2789–802InvestigadoresLICENSElicense.txtlicense.txttext/plain; charset=utf-85879https://repositorio.unal.edu.co/bitstream/unal/84500/1/license.txteb34b1cf90b7e1103fc9dfd26be24b4aMD51ORIGINAL52428595.2023.pdf52428595.2023.pdfTesis de Maestría en Morfología Humanaapplication/pdf2747964https://repositorio.unal.edu.co/bitstream/unal/84500/2/52428595.2023.pdf22293e628ceffd38aebe8c8bc6013fefMD52THUMBNAIL52428595.2023.pdf.jpg52428595.2023.pdf.jpgGenerated Thumbnailimage/jpeg6420https://repositorio.unal.edu.co/bitstream/unal/84500/3/52428595.2023.pdf.jpg80f66e88f897c422c77d3b2235826d67MD53unal/84500oai:repositorio.unal.edu.co:unal/845002024-08-18 23:13:07.576Repositorio Institucional Universidad Nacional de Colombiarepositorio_nal@unal.edu.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

Publicaciones similares