导致亨特综合征的基因新突变：一例报告
A New Mutation in Gene Causing Hunter Syndrome: A Case Report.
作者信息
Gomes Caio Perez, Marins Maryana Mara, Motta Fabiana Louise, Kyosen Sandra Obikawa, Curiati Marco Antonio, D'Almeida Vânia, Martins Ana Maria, Pesquero João Bosco
机构信息
Center for Research and Molecular Diagnosis of Genetic Diseases, Department of Biophysics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.
Inborn Errors of Metabolism Reference Center, Department of Pediatrics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.
出版信息
Front Genet. 2020 Mar 18;10:1383. doi: 10.3389/fgene.2019.01383. eCollection 2019.
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 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.
原理
II型粘多糖贮积症（亨特综合征）是一种X连锁多系统疾病，由溶酶体酶艾杜糖醛酸-2-硫酸酯酶（I2S）缺乏引起。该疾病的临床表现为严重骨骼畸形、气道阻塞、心肌病和神经功能恶化。
患者
患者为一名5岁6个月大的男孩，有发育迟缓、听力丧失、肝脾肿大和骨骼发育异常。根据临床表现、生化和基因分析，他被诊断为II型粘多糖贮积症。
结果
患者在该基因中半合子携带一个新突变（c.879-1210_1007-218del），根据2015年美国医学遗传学与基因组学学会-分子病理学协会指南，该突变被定义为致病性突变，并导致患者出现II型粘多糖贮积症表型。
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