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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

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Autor(es):
Gomes, Caio Perez [1] ; Marins, Maryana Mara [1] ; Motta, Fabiana Louise [1] ; Kyosen, Sandra Obikawa [2] ; Curiati, Marco Antonio [2] ; D'Almeida, Vania [3] ; Martins, Ana Maria [2] ; Pesquero, Joao Bosco [1]
Número total de Autores: 8
Afiliação do(s) autor(es):
[1] Univ Fed Sao Paulo, Ctr Res & Mol Diag Genet Dis, Dept Biophys, Escola Paulista Med, Sao Paulo - Brazil
[2] Univ Fed Sao Paulo, Inborn Errors Metab Reference Ctr, Dept Pediat, Escola Paulista Med, Sao Paulo - Brazil
[3] Univ Fed Sao Paulo, Inborn Errors Metab Lab, Dept Psychobiol, Escola Paulista Med, Sao Paulo - Brazil
Número total de Afiliações: 3
Tipo de documento: Artigo Científico
Fonte: FRONTIERS IN GENETICS; v. 10, MAR 18 2020.
Citações Web of Science: 0
Resumo

Rationale Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The clinical manifestations of this disease are severe skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration. Patient The patient was 5 years and 6 months boy, with developmental delay, hearing loss, hepatosplenomegaly, and skeletal dysplasia. He was diagnosed with mucopolysaccharidosis type II based on clinical manifestations, biochemical and genetic analysis. Outcomes The patient carries a new mutation (c.879-1210\_1007-218del) in hemizygosis in the IDS gene, which was defined as pathogenic according to the 2015 American College of Medical Genetics and Genomics-Association for Molecular Pathology guidelines and as responsible for the mucopolysaccharidosis type II phenotype in the patient. (AU)

Processo FAPESP: 14/27198-8 - Estabelecimento de um centro de pesquisa genética e molecular para desafios clínicos
Beneficiário:João Bosco Pesquero
Linha de fomento: Auxílio à Pesquisa - Temático