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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

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

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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]
Total Authors: 8
[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
Total Affiliations: 3
Document type: Journal article
Source: FRONTIERS IN GENETICS; v. 10, MAR 18 2020.
Web of Science Citations: 0

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)

FAPESP's process: 14/27198-8 - Establishment of a center of genetic and molecular research for clinical challenges
Grantee:João Bosco Pesquero
Support type: Research Projects - Thematic Grants