Produção Nacional
Revisado por pares
Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients
2013; Elsevier BV; Volume: 111; Issue: 2 Linguagem: Inglês
10.1016/j.ymgme.2013.08.011
ISSN1096-7206
AutoresAna Carolina Brusius‐Facchin, Ida Vanessa Döederlein Schwartz, Constantin Zimmer, Márcia Gonçalves Ribeiro, Angelina Xavier Acosta, Dafne Dain Gandelman Horovitz, Isabella Lopes Monlleó, Marshall Ítalo Barros Fontes, Agnes Cristina Fett‐Conte, Ruy P. Oliveira Sobrinho, Andréa R. Duarte, Raquel Boy, Paulina Mabe, Marta Ascurra, Maria De Michelena, Karen Tylee, G. T. N. Besley, M.C.V. Garreton, Roberto Giugliani, Sandra Leistner‐Segal,
Tópico(s)Glycogen Storage Diseases and Myoclonus
ResumoIn 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.
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