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

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...

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Published in:Frontiers in genetics 2020-03, Vol.10, p.1383
Main Authors: Gomes, Caio Perez, Marins, Maryana Mara, Motta, Fabiana Louise, Kyosen, Sandra Obikawa, Curiati, Marco Antonio, D'Almeida, Vânia, Martins, Ana Maria, Pesquero, João Bosco
Format: Article
Language:English
Subjects:
Genetics
Hunter syndrome
IDS
iduronate-2-sulfatase
inborn errors of metabolism
lisossomal storage disease
mucopolysaccharidosis type II
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creator Gomes, Caio Perez
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description 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. 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. The patient carries a new mutation (c.879-1210_1007-218del) in hemizygosis in the 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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subjects Genetics
Hunter syndrome
IDS
iduronate-2-sulfatase
inborn errors of metabolism
lisossomal storage disease
mucopolysaccharidosis type II
title A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report
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