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

dc.creatorBrusius-Facchin, Ana Carolina
dc.creatorSouza, Carolina Fischinger Moura De
dc.creatorSchwartz, Ida Vanessa D.
dc.creatorRiegel, Mariluce
dc.creatorMelaragno, Maria Isabel
dc.creatorCorreia, Patrícia
dc.creatorMoraes, Lúcia Marques
dc.creatorLlerena Junior, Juan Clinton
dc.creatorGiugliani, Roberto
dc.creatorLeistner-Segal
dc.date2014-11-14T10:54:06Z
dc.date2014-11-14T10:54:06Z
dc.date2012
dc.date.accessioned2023-09-26T22:12:59Z
dc.date.available2023-09-26T22:12:59Z
dc.identifierBRUSIUS-FACHIN, Ana Carolina et al. Severe phenotype in MPS II patients associated with a large deletion including contiguous genes. American Journal of Medical Genetics, Hoboken, v. 158A, p. 1055–1059, 2012.
dc.identifier0148-7299
dc.identifierhttps://www.arca.fiocruz.br/handle/icict/8853
dc.identifier10.1002/ajmg.a.35271
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8876371
dc.descriptionHunter 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 catabolismof 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 9.4Mb deletion in Patient 1, a 3.9Mb deletion of the Xq27.3–Xq28 and a 3.1Mb duplication of the X q28 region in Patient 2 and a 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.
dc.formatapplication/pdf
dc.languageeng
dc.publisherWiley Liss
dc.rightsrestricted access
dc.subjectMucopolysaccharidosis II
dc.subjectHunter Syndrome
dc.subjectDeletion
dc.subjectSNP-Array
dc.subjectMutation Analysis
dc.subjectMucopolissacaridose II
dc.subjectPolimorfismo de Nucleotídeo Único
dc.titleSevere phenotype in MPS II patients associated with a large deletion including contiguous genes
dc.typeArticle


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