Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability
We report two Colombian siblings affected by overgrowth, intellectual disability and facial dysmorphism. Exome (via NGS) and Sanger sequencing revealed that biallelic sequence variants in a novel gene (HERC1) might be related to the disease pathogenesis. These results provide useful data for future...
- Autores:
- Tipo de recurso:
- Fecha de publicación:
- 2015
- Institución:
- Universidad del Rosario
- Repositorio:
- Repositorio EdocUR - U. Rosario
- Idioma:
- eng
- OAI Identifier:
- oai:repository.urosario.edu.co:10336/23680
- Acceso en línea:
- https://doi.org/10.1111/cge.12634
https://repository.urosario.edu.co/handle/10336/23680
- Palabra clave:
- Allele
Article
Case report
Clinical feature
Colombian
Exome
Face dysmorphia
Female
Gene
Genotype phenotype correlation
Herc 1 gene
Human
Intellectual impairment
Male
Molecular diagnosis
Newborn
Pathogenesis
Priority journal
Sequence analysis
Sibling
Dna mutational analysis
Genetic association study
Genetics
Growth disorder
Human genome
Intellectual impairment
Mutation
Pathology
Syndrome
Guanine nucleotide exchange factor
Dna mutational analysis
Female
Genetic association studies
Growth disorders
Guanine nucleotide exchange factors
Humans
Intellectual disability
Male
Mutation
Syndrome
Exome sequencing
Herc1 mutations
Herc1 mutations
Intellectual disability
Overgrowth
human
human
Herc1 protein
Genome
- Rights
- License
- Abierto (Texto Completo)
| id |
EDOCUR2_4e64d0351d85d3066bb949261c10d3e3 |
|---|---|
| oai_identifier_str |
oai:repository.urosario.edu.co:10336/23680 |
| network_acronym_str |
EDOCUR2 |
| network_name_str |
Repositorio EdocUR - U. Rosario |
| repository_id_str |
|
| spelling |
cd408585-8cd9-47e0-bf86-9273ff55de674c6dd460-764a-40b6-abf1-68c93a301c586113d5fb-ae2c-49c0-ae74-80f2dd10cc1f4e9ce65e-0951-4f26-9dd3-452291d71a78193318196002a135e49-0a9b-4bd0-aeeb-1127e4f68c96f27097fd-56db-4d27-91ed-7ffc57f6a0462020-05-26T00:04:22Z2020-05-26T00:04:22Z2015We report two Colombian siblings affected by overgrowth, intellectual disability and facial dysmorphism. Exome (via NGS) and Sanger sequencing revealed that biallelic sequence variants in a novel gene (HERC1) might be related to the disease pathogenesis. These results provide useful data for future genotype-phenotype correlations and for a molecular diagnosis of overgrowth. © 2015 John Wiley and Sons A/S. Published by John Wiley and Sons Ltd.application/pdfhttps://doi.org/10.1111/cge.126340009916313990004https://repository.urosario.edu.co/handle/10336/23680engBlackwell Publishing Ltde3No. 4e1Clinical GeneticsVol. 88Clinical Genetics, ISSN:00099163, 13990004, Vol.88, No.4 (2015); pp. e1-e3https://www.scopus.com/inward/record.uri?eid=2-s2.0-84941744212&doi=10.1111%2fcge.12634&partnerID=40&md5=d2f02cd5771c9fec207f29f1500d6701Abierto (Texto Completo)http://purl.org/coar/access_right/c_abf2instname:Universidad del Rosarioreponame:Repositorio Institucional EdocURAlleleArticleCase reportClinical featureColombianExomeFace dysmorphiaFemaleGeneGenotype phenotype correlationHerc 1 geneHumanIntellectual impairmentMaleMolecular diagnosisNewbornPathogenesisPriority journalSequence analysisSiblingDna mutational analysisGenetic association studyGeneticsGrowth disorderHuman genomeIntellectual impairmentMutationPathologySyndromeGuanine nucleotide exchange factorDna mutational analysisFemaleGenetic association studiesGrowth disordersGuanine nucleotide exchange factorsHumansIntellectual disabilityMaleMutationSyndromeExome sequencingHerc1 mutationsHerc1 mutationsIntellectual disabilityOvergrowthhumanhumanHerc1 proteinGenomeBiallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disabilityarticleArtículohttp://purl.org/coar/version/c_970fb48d4fbd8a85http://purl.org/coar/resource_type/c_6501Ortega?Recalde, O.Beltrán, O.I.Gálvez, J.M.Palma?Montero, A.Restrepo Fernández, Carlos MartínMateus, H.E.Laissue, P.10336/23680oai:repository.urosario.edu.co:10336/236802022-05-02 07:37:17.085454https://repository.urosario.edu.coRepositorio institucional EdocURedocur@urosario.edu.co |
| dc.title.spa.fl_str_mv |
Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability |
| title |
Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability |
| spellingShingle |
Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability Allele Article Case report Clinical feature Colombian Exome Face dysmorphia Female Gene Genotype phenotype correlation Herc 1 gene Human Intellectual impairment Male Molecular diagnosis Newborn Pathogenesis Priority journal Sequence analysis Sibling Dna mutational analysis Genetic association study Genetics Growth disorder Human genome Intellectual impairment Mutation Pathology Syndrome Guanine nucleotide exchange factor Dna mutational analysis Female Genetic association studies Growth disorders Guanine nucleotide exchange factors Humans Intellectual disability Male Mutation Syndrome Exome sequencing Herc1 mutations Herc1 mutations Intellectual disability Overgrowth human human Herc1 protein Genome |
| title_short |
Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability |
| title_full |
Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability |
| title_fullStr |
Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability |
| title_full_unstemmed |
Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability |
| title_sort |
Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability |
| dc.subject.keyword.spa.fl_str_mv |
Allele Article Case report Clinical feature Colombian Exome Face dysmorphia Female Gene Genotype phenotype correlation Herc 1 gene Human Intellectual impairment Male Molecular diagnosis Newborn Pathogenesis Priority journal Sequence analysis Sibling Dna mutational analysis Genetic association study Genetics Growth disorder Human genome Intellectual impairment Mutation Pathology Syndrome Guanine nucleotide exchange factor Dna mutational analysis Female Genetic association studies Growth disorders Guanine nucleotide exchange factors Humans Intellectual disability Male Mutation Syndrome Exome sequencing Herc1 mutations Herc1 mutations Intellectual disability Overgrowth |
| topic |
Allele Article Case report Clinical feature Colombian Exome Face dysmorphia Female Gene Genotype phenotype correlation Herc 1 gene Human Intellectual impairment Male Molecular diagnosis Newborn Pathogenesis Priority journal Sequence analysis Sibling Dna mutational analysis Genetic association study Genetics Growth disorder Human genome Intellectual impairment Mutation Pathology Syndrome Guanine nucleotide exchange factor Dna mutational analysis Female Genetic association studies Growth disorders Guanine nucleotide exchange factors Humans Intellectual disability Male Mutation Syndrome Exome sequencing Herc1 mutations Herc1 mutations Intellectual disability Overgrowth human human Herc1 protein Genome |
| dc.subject.keyword.eng.fl_str_mv |
human human Herc1 protein Genome |
| description |
We report two Colombian siblings affected by overgrowth, intellectual disability and facial dysmorphism. Exome (via NGS) and Sanger sequencing revealed that biallelic sequence variants in a novel gene (HERC1) might be related to the disease pathogenesis. These results provide useful data for future genotype-phenotype correlations and for a molecular diagnosis of overgrowth. © 2015 John Wiley and Sons A/S. Published by John Wiley and Sons Ltd. |
| publishDate |
2015 |
| dc.date.created.spa.fl_str_mv |
2015 |
| dc.date.accessioned.none.fl_str_mv |
2020-05-26T00:04:22Z |
| dc.date.available.none.fl_str_mv |
2020-05-26T00:04:22Z |
| dc.type.eng.fl_str_mv |
article |
| dc.type.coarversion.fl_str_mv |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.coar.fl_str_mv |
http://purl.org/coar/resource_type/c_6501 |
| dc.type.spa.spa.fl_str_mv |
Artículo |
| dc.identifier.doi.none.fl_str_mv |
https://doi.org/10.1111/cge.12634 |
| dc.identifier.issn.none.fl_str_mv |
00099163 13990004 |
| dc.identifier.uri.none.fl_str_mv |
https://repository.urosario.edu.co/handle/10336/23680 |
| url |
https://doi.org/10.1111/cge.12634 https://repository.urosario.edu.co/handle/10336/23680 |
| identifier_str_mv |
00099163 13990004 |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.citationEndPage.none.fl_str_mv |
e3 |
| dc.relation.citationIssue.none.fl_str_mv |
No. 4 |
| dc.relation.citationStartPage.none.fl_str_mv |
e1 |
| dc.relation.citationTitle.none.fl_str_mv |
Clinical Genetics |
| dc.relation.citationVolume.none.fl_str_mv |
Vol. 88 |
| dc.relation.ispartof.spa.fl_str_mv |
Clinical Genetics, ISSN:00099163, 13990004, Vol.88, No.4 (2015); pp. e1-e3 |
| dc.relation.uri.spa.fl_str_mv |
https://www.scopus.com/inward/record.uri?eid=2-s2.0-84941744212&doi=10.1111%2fcge.12634&partnerID=40&md5=d2f02cd5771c9fec207f29f1500d6701 |
| dc.rights.coar.fl_str_mv |
http://purl.org/coar/access_right/c_abf2 |
| dc.rights.acceso.spa.fl_str_mv |
Abierto (Texto Completo) |
| rights_invalid_str_mv |
Abierto (Texto Completo) http://purl.org/coar/access_right/c_abf2 |
| dc.format.mimetype.none.fl_str_mv |
application/pdf |
| dc.publisher.spa.fl_str_mv |
Blackwell Publishing Ltd |
| institution |
Universidad del Rosario |
| dc.source.instname.spa.fl_str_mv |
instname:Universidad del Rosario |
| dc.source.reponame.spa.fl_str_mv |
reponame:Repositorio Institucional EdocUR |
| repository.name.fl_str_mv |
Repositorio institucional EdocUR |
| repository.mail.fl_str_mv |
edocur@urosario.edu.co |
| _version_ |
1814167586854666240 |