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Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients

By A. C. Brusius-Facchin, I. V. D. Schwartz, C. Zimmer, M. G. Ribeiro, A. X. Acosta, D. Horovitz, I. L. Monlleó, M. I. B. Fontes, A. Fett-Conte, R. P. Oliveira Sobrinho, A. R. Duarte, R. Boy, P. Mabe, M. Ascurra, M. de Michelena, K. L. Tylee, G. T. N. Besley, M. C. V. Garreton, R. Giugliani and S. Leistner-Segal


In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investi-gated 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 identifica-tion of the previously reported inversion/disruption of theIDSgene by PCR and screening for othermutations 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 tofind the pathogenic mutation in all patients. Alterations such as inversion/disruption and partial/total deletions of theIDS gene were found in 20/103 (19%) patients. Small insertions/deletions/indels (b22 bp) andpointmutationswere identified in83/103 (88%) patients, includ-ing 30 novel mutations; except for a higher frequency of small duplications in relation to small deletions, the fre-quencies of major and minor alterations found in our sample are in accordance with those described in the literature

Topics: Mucopolysaccharidosis Type II, Glycosaminoglycans, Hunter Syndrome, Iduronate-2-Sulfatase, Genotype–Phenotype Correlation, Mucopolissacaridose II, Glicosaminoglicanas, Iduronato Sulfatase, Genótipo, Fenótipo
Publisher: Elsevier
Year: 2014
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