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

Author(s)

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]

Affiliation

^[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

• Document type: Journal article
• Source: FRONTIERS IN GENETICS; v. 10, MAR 18 2020.
• Web of Science Citations: 0

Abstract

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 Opportunities: Research Projects - Thematic Grants