Objective:To explore the genetic cause of a Chinese autosomal dominant nonsyndromic hearing loss family and investigate the clinical features and molecular genetic characteristics of this family. Method:Detailed medical history and systematic audiology tests were carried out in the family members, and they were subjected to comprehensive genetic analyses using massively parallel sequencing, which targeted 139 known deafness genes and 6 mitochondrial DNA mutations associated with hearing loss. Result:This family's hearing loss was consistent with autosomal dominant nonsyndromic hearing loss. The affected family members appeared to have developed a high-frequency hearing loss with the onset of twenties. We identified a heterozygous missense mutation, c.418A>G/p. Thr140Ala in the CEACAM16 gene, segregating with the deafness in this family. Conclusion:In this study, we identified a new mutation of CEACAM16 gene, which was the second mutation identified in Chinese hearing loss population. It has enriched the mutation spectrum of this gene.
目的：对我国一个常染色体显性遗传性耳聋家系进行临床特征及分子遗传学分析，明确其病因，为今后临床上开展基因诊断奠定基础。 方法：通过问卷调查方式采集家系成员的病史，并进行系统的查体和听力学检查。家系成员留取外周静脉血提取DNA，开展包括139个已知耳聋基因的目标区域捕获和测序，同时对6个耳聋相关的线粒体DNA突变位点进行检测。 结果：该家系成员主要表现为20岁左右发病的听力进行性下降的常染色体显性遗传性耳聋，听力图主要表现为高频下降型。基因检测结果提示先证者及其母亲和女儿携带CEACAM16基因c.418A>G /p.Thr140Ala杂合突变，并且其基因型与临床表型共分离，考虑为新发现的致病突变。 结论：本研究在我国的一个常染色体显性遗传性耳聋家系中发现了CEACAM16基因的一个新的突变位点，这是我国耳聋人群中检测到的第2个可能的致病突变，丰富了我国人群该基因的突变图谱。.
Keywords: CEACAM16 gene; deafness; mutation.
Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.