Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

Página do item simplificado
dc.contributor.authorBrusius-Facchin, Ana Carolina
dc.contributor.authorMoura de Souza, Carolina Fischinger
dc.contributor.authorSchwartz, Ida Vanessa D.
dc.contributor.authorRiegel, Mariluce
dc.contributor.authorMelaragno, Maria Isabel [UNIFESP]
dc.contributor.authorCorreia, Patricia
dc.contributor.authorMoraes, Lucia Marques
dc.contributor.authorLlerena, Juan
dc.contributor.authorGiugliani, Roberto
dc.contributor.authorLeistner-Segal, Sandra
dc.contributor.institutionHosp Clin
dc.contributor.institutionUniv Fed Rio Grande do Sul
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionFiocruz MS
dc.date.accessioned2016-01-24T14:27:10Z
dc.date.available2016-01-24T14:27:10Z
dc.date.issued2012-05-01
dc.description.abstractHunter disease or mucopolysaccharidosis type II (MPS II) is an X-linked recessive lysosomal disorder caused by the deficiency of iduronate-2-sulfatase, which is involved in the catabolism of the glycosaminoglycans (GAGs) heparan and dermatan sulphate. Our aim was to analyze three patients with severe Hunter syndrome that showed a total deletion of the iduronate-2-sulphatase (IDS) gene, after exon by exon PCR. DNA was used as a template for PCR synthesis of IDS, FRAXA, FRAXE, and DXS1113 specific amplicons. the DNA analysis for all three patients demonstrated a complete deletion of IDS, FRAXA, and FRAXE contiguous genes. We further performed SNP-array to delineate the deletion breakpoints and to characterize the deletion extension in the different patients. the results indicated a similar to 9.4?Mb deletion in Patient 1, a similar to 3.9?Mb deletion of the Xq27.3Xq28 and a similar to 3.1?Mb duplication of the X q28 region in Patient 2 and a similar to 41.8?Kb deletion in Patient 3. SNP-array was shown to be important to map for deletion breakpoints. A comprehensive molecular analysis in patients with Hunter syndrome, especially in the ones presenting the severe form, is important to the understanding of the genetic determinants of the phenotype and for the genetic counseling to be provided to the families. (c) 2012 Wiley Periodicals, Inc.en
dc.description.affiliationHosp Clin, Med Genet Serv, Porto Alegre, RS, Brazil
dc.description.affiliationUniv Fed Rio Grande do Sul, Post Grad Program Med Sci, Porto Alegre, RS, Brazil
dc.description.affiliationUniv Fed Rio Grande do Sul, Dept Genet, Porto Alegre, RS, Brazil
dc.description.affiliationHosp Clin, BRAIN Lab, Porto Alegre, RS, Brazil
dc.description.affiliationHosp Clin, Expt Res Ctr, Gene Therapy Ctr, Porto Alegre, RS, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Genet Discipline, Dept Morphol & Genet, São Paulo, Brazil
dc.description.affiliationFiocruz MS, Fernandes Figueira Inst, Dept Med Genet, BR-21045900 Rio de Janeiro, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Genet Discipline, Dept Morphol & Genet, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorshipFIPE-HCPA
dc.description.sponsorshipBrazilian MPS Network (Rede MPS Brazil)
dc.description.sponsorshipIDCNPq: 402012/2010-0
dc.format.extent1055-1059
dc.identifier.citationAmerican Journal of Medical Genetics Part A. Malden: Wiley-Blackwell, v. 158A, n. 5, p. 1055-1059, 2012.
dc.identifier.doi10.1002/ajmg.a.35271
dc.identifier.issn1552-4825
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/34833
dc.identifier.wosWOS:000303000200012
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofAmerican Journal of Medical Genetics Part A
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.subjectmucopolysaccharidosis IIen
dc.subjecthunter syndromeen
dc.subjectdeletionen
dc.subjectSNP-arrayen
dc.subjectmutation analysisen
dc.titleSevere phenotype in MPS II patients associated with a large deletion including contiguous genesen
dc.typeinfo:eu-repo/semantics/article
Arquivos
Coleções
EPM - Artigos