Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/201452
Type: Artigo de periódico
Title: Mucopolysaccharidosis Type Ii: Identification Of 30 Novel Mutations Among Latin American Patients.
Author: Brusius-Facchin, A C
Schwartz, I V D
Zimmer, C
Ribeiro, M G
Acosta, A X
Horovitz, D
Monlleó, I L
Fontes, M I B
Fett-Conte, A
Sobrinho, R P Oliveira
Duarte, A R
Boy, R
Mabe, P
Ascurra, M
de Michelena, M
Tylee, K L
Besley, G T N
Garreton, M C V
Giugliani, R
Leistner-Segal, S
Abstract: In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genotype-phenotype correlation The strategy used for genotyping involved the identification of the previously reported inversion/disruption of the IDS gene by PCR and screening for other mutations by PCR/SSCP. The exons with altered mobility on SSCP were sequenced, as well as all the exons of patients with no SSCP alteration. By using this strategy, we were able to find the pathogenic mutation in all patients. Alterations such as inversion/disruption and partial/total deletions of the IDS gene were found in 20/103 (19%) patients. Small insertions/deletions/indels (<22 bp) and point mutations were identified in 83/103 (88%) patients, including 30 novel mutations; except for a higher frequency of small duplications in relation to small deletions, the frequencies of major and minor alterations found in our sample are in accordance with those described in the literature.
Subject: Adult
Exons
Female
Genetic Association Studies
Genotyping Techniques
Humans
Iduronate Sulfatase
Mucopolysaccharidosis Ii
Mutation
Sequence Analysis, Dna
Severity Of Illness Index
South America
Genotype–phenotype Correlation
Glycosaminoglycans
Hunter Syndrome
Iduronate-2-sulfatase
Mucopolysaccharidosis Type Ii
Rights: fechado
Identifier DOI: 10.1016/j.ymgme.2013.08.011
Address: http://www.ncbi.nlm.nih.gov/pubmed/24125893
Date Issue: 2014
Appears in Collections:Unicamp - Artigos e Outros Documentos

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