Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)
ntroduction: Maroteaux-Lamy syndrome, or mucopolysaccharidosis (MPS) type VI, is an autosomal recessive lysosomal storage disease caused by a deficient activity of the enzyme arylsulfatase B (ARSB), required to degrade dermatan sulfate. The onset and progression of the disease vary, producing a spec...
- Autores:
-
Giraldo, Gustavo Adolfo
ayala, paola
prieto, juan carlos
García-Robles, Reggie
ACOSTA GUIO, JOHANNA CAROLINA
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2016
- Institución:
- Universidad El Bosque
- Repositorio:
- Repositorio U. El Bosque
- Idioma:
- eng
- OAI Identifier:
- oai:repositorio.unbosque.edu.co:20.500.12495/3534
- Acceso en línea:
- http://hdl.handle.net/20.500.12495/3534
https://doi.org/10.1016/j.mgene.2015.12.004
https://repositorio.unbosque.edu.co
- Palabra clave:
- Mutación
Glicosaminoglicanos
Aberraciones cromosómicas
Mucopolysaccharidosis type VI
ARSB deficiency
Lysosomal storage disease
- Rights
- openAccess
- License
- Attribution-NonCommercial-ShareAlike 4.0 International
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| dc.title.spa.fl_str_mv |
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome) |
| dc.title.translated.spa.fl_str_mv |
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome) |
| title |
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome) |
| spellingShingle |
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome) Mutación Glicosaminoglicanos Aberraciones cromosómicas Mucopolysaccharidosis type VI ARSB deficiency Lysosomal storage disease |
| title_short |
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome) |
| title_full |
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome) |
| title_fullStr |
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome) |
| title_full_unstemmed |
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome) |
| title_sort |
Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome) |
| dc.creator.fl_str_mv |
Giraldo, Gustavo Adolfo ayala, paola prieto, juan carlos García-Robles, Reggie ACOSTA GUIO, JOHANNA CAROLINA |
| dc.contributor.author.none.fl_str_mv |
Giraldo, Gustavo Adolfo ayala, paola prieto, juan carlos García-Robles, Reggie ACOSTA GUIO, JOHANNA CAROLINA |
| dc.contributor.orcid.none.fl_str_mv |
García-Robles, Reggie [0000-0002-6804-0979] García-Robles, Reggie [0000-0002-6804-0979] |
| dc.subject.decs.spa.fl_str_mv |
Mutación Glicosaminoglicanos Aberraciones cromosómicas |
| topic |
Mutación Glicosaminoglicanos Aberraciones cromosómicas Mucopolysaccharidosis type VI ARSB deficiency Lysosomal storage disease |
| dc.subject.keywords.spa.fl_str_mv |
Mucopolysaccharidosis type VI ARSB deficiency Lysosomal storage disease |
| description |
ntroduction: Maroteaux-Lamy syndrome, or mucopolysaccharidosis (MPS) type VI, is an autosomal recessive lysosomal storage disease caused by a deficient activity of the enzyme arylsulfatase B (ARSB), required to degrade dermatan sulfate. The onset and progression of the disease vary, producing a spectrum of clinical presentation. So far, 133 mutations have been reported. The aim of this study is to determine the mutations in the ARSB gene that are responsible for this disease in Colombian patients. Results: Fourteen patients with clinical manifestations and biochemical diagnosis of MPS VI were studied, including two siblings. The 8 exons of the gene were directly sequenced from patients' DNA, and 14 mutations were found. 57% of these mutations had not been previously reported (p.H111P, p.C121R, p.G446S, p.*534W, p.S334I, p.H147P, c.900T. >. G, and c.1531_1553del) and 43% had been previously reported (p.G144R, p.W322*, p.G302R, p.C447F, p.L128del, and c.1143-1G. >. C). Of the previously reported mutations, 80% have been associated with severe phenotypes and 20% with intermediate-severe phenotypes. Bioinformatic predictions indicate that the new mutations reported in this paper are also highly deleterious. Conclusions: Most of the Colombian patients in this study had private mutations. |
| publishDate |
2016 |
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2016 |
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2020-07-16T16:02:17Z |
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2020-07-16T16:02:17Z |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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Artículo de revista |
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http://purl.org/coar/resource_type/c_6501 |
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info:eu-repo/semantics/article |
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http://purl.org/coar/resource_type/c_6501 |
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2214-5400 |
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http://hdl.handle.net/20.500.12495/3534 |
| dc.identifier.doi.none.fl_str_mv |
https://doi.org/10.1016/j.mgene.2015.12.004 |
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instname:Universidad El Bosque |
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reponame:Repositorio Institucional Universidad El Bosque |
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https://repositorio.unbosque.edu.co |
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2214-5400 instname:Universidad El Bosque reponame:Repositorio Institucional Universidad El Bosque |
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| dc.language.iso.none.fl_str_mv |
eng |
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eng |
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Meta gene, 2214-5400, Vol. 7, 2016, p. 83-89 |
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https://www.sciencedirect.com/science/article/pii/S2214540015000766 |
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Attribution-NonCommercial-ShareAlike 4.0 International |
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http://purl.org/coar/access_right/c_abf2 info:eu-repo/semantics/openAccess Acceso abierto |
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2016-02-01 |
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openAccess |
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application/pdf |
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Elsevier |
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Meta gene |
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Universidad El Bosque |
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Giraldo, Gustavo Adolfoayala, paolaprieto, juan carlosGarcía-Robles, ReggieACOSTA GUIO, JOHANNA CAROLINAGarcía-Robles, Reggie [0000-0002-6804-0979]García-Robles, Reggie [0000-0002-6804-0979]2020-07-16T16:02:17Z2020-07-16T16:02:17Z20162214-5400http://hdl.handle.net/20.500.12495/3534https://doi.org/10.1016/j.mgene.2015.12.004instname:Universidad El Bosquereponame:Repositorio Institucional Universidad El Bosquehttps://repositorio.unbosque.edu.coapplication/pdfengElsevierMeta geneMeta gene, 2214-5400, Vol. 7, 2016, p. 83-89https://www.sciencedirect.com/science/article/pii/S2214540015000766Attribution-NonCommercial-ShareAlike 4.0 Internationalhttp://creativecommons.org/licenses/by-nc-sa/4.0/Acceso abiertohttp://purl.org/coar/access_right/c_abf2info:eu-repo/semantics/openAccessAcceso abierto2016-02-01Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)Artículo de revistahttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articlehttp://purl.org/coar/version/c_970fb48d4fbd8a85MutaciónGlicosaminoglicanosAberraciones cromosómicasMucopolysaccharidosis type VIARSB deficiencyLysosomal storage diseasentroduction: Maroteaux-Lamy syndrome, or mucopolysaccharidosis (MPS) type VI, is an autosomal recessive lysosomal storage disease caused by a deficient activity of the enzyme arylsulfatase B (ARSB), required to degrade dermatan sulfate. The onset and progression of the disease vary, producing a spectrum of clinical presentation. So far, 133 mutations have been reported. The aim of this study is to determine the mutations in the ARSB gene that are responsible for this disease in Colombian patients. Results: Fourteen patients with clinical manifestations and biochemical diagnosis of MPS VI were studied, including two siblings. The 8 exons of the gene were directly sequenced from patients' DNA, and 14 mutations were found. 57% of these mutations had not been previously reported (p.H111P, p.C121R, p.G446S, p.*534W, p.S334I, p.H147P, c.900T. >. G, and c.1531_1553del) and 43% had been previously reported (p.G144R, p.W322*, p.G302R, p.C447F, p.L128del, and c.1143-1G. >. C). Of the previously reported mutations, 80% have been associated with severe phenotypes and 20% with intermediate-severe phenotypes. Bioinformatic predictions indicate that the new mutations reported in this paper are also highly deleterious. 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