Hu Yi-Ying, Lian Ya-Jun, Xu Hong-Liang, Zheng Ya-Ke, Li Chen-Fei, Zhang Ji-Wei, Yan Shu-Ping
The First Affiliated Hospital of Zhengzhou University, China.
The First Affiliated Hospital of Zhengzhou University, China.
Neurosci Lett. 2018 Jan 18;664:107-109. doi: 10.1016/j.neulet.2017.10.048. Epub 2017 Nov 11.
Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF), a 150-kb gene on chromosome 2p13 that contains 55 coding exons. Many patients with MM harbour mutations in the DYSF gene, and most of these mutations are inherited from the patients' parents. Recently, we encountered novel, de novo mutations in the DYSF gene in a patient with MM. DYSF gene analysis was performed by targeted next-generation sequencing, and we found that the patient had compound heterozygous mutations, including a de novo mutation (c.613C > T) in exon 6 and a novel missense mutation (c.968T > C) in exon 11. The novel missense mutation, predicted to be a disease-causing mutation or affecting protein function by MutationTaster and Polyphen2, confirmed the diagnosis. These findings provide important insights into the pathogenesis and inheritance of MM.
三泽肌病（MM）是一种常染色体隐性远端肌营养不良症，由肌营养不良蛋白基因（DYSF）突变引起，该基因位于2号染色体p13上，大小为150kb，包含55个编码外显子。许多MM患者的DYSF基因存在突变，且大多数这些突变是从患者父母那里遗传而来。最近，我们在一名MM患者中发现了DYSF基因的新型新发突变。通过靶向二代测序进行DYSF基因分析，我们发现该患者有复合杂合突变，包括外显子6中的一个新发突变（c.613C>T）和外显子11中的一个新型错义突变（c.968T>C）。MutationTaster和Polyphen2预测该新型错义突变是致病突变或影响蛋白质功能，这证实了诊断。这些发现为MM的发病机制和遗传提供了重要见解。
