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.
CITATION STYLE
Gomes, C. P., Marins, M. M., Motta, F. L., Kyosen, S. O., Curiati, M. A., D’Almeida, V., … Pesquero, J. B. (2020). A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report. Frontiers in Genetics, 10. https://doi.org/10.3389/fgene.2019.01383
Mendeley helps you to discover research relevant for your work.