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- Title
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.
- 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
- 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.
- Subjects
GENETIC mutation; MEDICAL genetics; SYNDROMES; SKELETAL dysplasia; MOLECULAR pathology; SPINAL tuberculosis
- Publication
Frontiers in Genetics, 2020, p1
- ISSN
1664-8021
- Publication type
Article
- DOI
10.3389/fgene.2019.01383