Department of Otorhinolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Ear Institute, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Neural Plast. 2018 Apr 16;2018:7272308. doi: 10.1155/2018/7272308. eCollection 2018.
Genetic hearing impairment is highly heterogeneous. In this study, targeted next-generation sequencing (NGS) in two Chinese Han families identified a novel p.G141R homozygous mutation in as the genetic cause of the deafness. Consistent with the recessive inheritance, cosegregation of the p.G141R variant with the hearing loss was confirmed in members of both families by PCR amplification and Sanger sequencing. SNP genotyping analysis suggested that those two families were not closely related. Our study showed that targeted NGS is an effective tool for diagnosis of genetic deafness and that p.G141R in may be a relatively frequent mutation for DFNB42 in Chinese Hans.
遗传性听力障碍具有高度异质性。本研究通过对两个中国汉族家系进行靶向二代测序（NGS），发现 G141R 纯合突变是导致耳聋的遗传原因。与隐性遗传一致，通过 PCR 扩增和 Sanger 测序，在两个家系的成员中均证实了 p.G141R 变异与听力损失的共分离。SNP 基因分型分析表明，这两个家系没有密切的亲缘关系。本研究表明，靶向 NGS 是遗传性耳聋诊断的有效工具，而 中的 p.G141R 可能是中国汉族人群中 DFNB42 的一种较为常见的突变。
