Frontiers in Genetics (Mar 2020)

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

  • Caio Perez Gomes,
  • Maryana Mara Marins,
  • Fabiana Louise Motta,
  • Sandra Obikawa Kyosen,
  • Marco Antonio Curiati,
  • Vânia D’Almeida,
  • Ana Maria Martins,
  • João Bosco Pesquero

DOI
https://doi.org/10.3389/fgene.2019.01383
Journal volume & issue
Vol. 10

Abstract

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RationaleMucopolysaccharidosis 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.PatientThe 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.OutcomesThe 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.

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