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Updated: Dec 24, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report

Caio Perez Gomes1, Maryana Mara Marins1, Fabiana Louise Motta1

  • 1Center for Research and Molecular Diagnosis of Genetic Diseases, Department of Biophysics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.

Frontiers in Genetics
|April 8, 2020
PubMed
Summary

Mucopolysaccharidosis type II (Hunter syndrome) is a genetic disorder caused by a deficiency in the iduronate-2-sulfatase (I2S) enzyme. A novel mutation in the IDS gene was identified as pathogenic, explaining the patient's severe symptoms.

Keywords:
Hunter syndromeIDSiduronate-2-sulfataseinborn errors of metabolismlisossomal storage diseasemucopolysaccharidosis type II

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