Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)

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dc.contributor.authorGiraldo, Gustavo Adolfo
dc.contributor.authorayala, paola
dc.contributor.authorprieto, juan carlos
dc.contributor.authorGarcía-Robles, Reggie
dc.contributor.authorACOSTA GUIO, JOHANNA CAROLINA
dc.contributor.orcidGarcía-Robles, Reggie [0000-0002-6804-0979]
dc.contributor.orcidGarcía-Robles, Reggie [0000-0002-6804-0979]
dc.date.accessioned2020-07-16T16:02:17Z
dc.date.available2020-07-16T16:02:17Z
dc.date.issued2016
dc.description.abstractenglishntroduction: 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.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.mgene.2015.12.004
dc.identifier.instnameinstname:Universidad El Bosquespa
dc.identifier.issn2214-5400
dc.identifier.reponamereponame:Repositorio Institucional Universidad El Bosquespa
dc.identifier.repourlhttps://repositorio.unbosque.edu.co
dc.identifier.urihttps://hdl.handle.net/20.500.12495/3534
dc.language.isoeng
dc.publisherElsevierspa
dc.publisher.journalMeta genespa
dc.relation.ispartofseriesMeta gene, 2214-5400, Vol. 7, 2016, p. 83-89spa
dc.relation.urihttps://www.sciencedirect.com/science/article/pii/S2214540015000766
dc.rightsAttribution-NonCommercial-ShareAlike 4.0 International*
dc.rights.accessrightshttps://purl.org/coar/access_right/c_abf2
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.accessrightsAcceso abierto
dc.rights.creativecommons2016-02-01
dc.rights.localAcceso abiertospa
dc.rights.urihttps://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.subject.decsMutaciónspa
dc.subject.decsGlicosaminoglicanosspa
dc.subject.decsAberraciones cromosómicasspa
dc.subject.keywordsMucopolysaccharidosis type VIspa
dc.subject.keywordsARSB deficiencyspa
dc.subject.keywordsLysosomal storage diseasespa
dc.titleMolecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)spa
dc.title.translatedMolecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome)spa
dc.type.coarhttps://purl.org/coar/resource_type/c_6501
dc.type.driverinfo:eu-repo/semantics/article
dc.type.hasversioninfo:eu-repo/semantics/publishedVersion
dc.type.localArtículo de revista

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