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

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

JOURNAL=Frontiers in Genetics

VOLUME=10

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2019.01383

DOI=10.3389/fgene.2019.01383

ISSN=1664-8021

ABSTRACT=<sec><title>Rationale</title><p>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.</p></sec><sec><title>Patient</title><p>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.</p></sec><sec><title>Outcomes</title><p>The patient carries a new mutation (c.879-1210_1007-218del) in hemizygosis in the <italic>IDS</italic> 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.</p></sec>