Department of Otorhinolaryngology, the First Affiliated Hospital, Sun Yat-sen University and Institute of Otorhinolaryngology, Sun Yat-sen University, Guangzhou 510080, People's Republic of China.
J Transl Med. 2014 Mar 11;12:64. doi: 10.1186/1479-5876-12-64.
Racial and regional factors are important for the clinical diagnosis of non-syndromic hearing impairment. Comprehensive genetic analysis of deaf patients in different regions of China must be performed to provide effective genetic counseling. To evaluate the mutational spectrum of south Chinese families, we performed genetic analysis for non-syndromic hearing impairment in this population.
Complete clinical evaluations were performed on 701 unrelated patients with non-syndromic hearing impairment from six provinces in south China. Each subject was screened for common mutations, including SLC26A4 c.IVS7-2A > G, c.2168A > G; mitochondrial DNA m.1555A > G, m.1494C > T, m.7444G > A, m.7445A > G; GJB3 c.538C > T, c.547G > A; and WFS1 c.1901A > C, using pyrosequencing. GJB2 and SLC26A4 coding region mutation detection were performed using Sanger sequencing.
Genetic analysis revealed that among the etiology of non-syndromic hearing impairment, GJB2, SLC26A4, and mitochondrial m.1555A > G mutations accounted for 18.0%, 13.1%, and 0.9%, respectively. Common mutations included GJB2 c.235delC, c.109G > A, SLC26A4 c.IVS7-2A > G, c.1229 T > C, and mitochondrial m.1555A > G. The total mutation rate was 45.1% in all patients examined in south China. Overall, the clear contribution of GJB2, SLC26A4, and mitochondrial m.1555A > G to the etiology of the non-syndromic deafness population in south China was 32.0%.
Our study is the first genetic analysis of non-syndromic hearing impairment in south China, and revealed that a clear genetic etiology accounted for 32.0% of non-syndromic hearing cases in patients from these regions. The mutational spectrum of non-syndromic hearing impairment in the south Chinese population provides useful and targeted information to aid in genetic counseling.
种族和地域因素对非综合征型听力损失的临床诊断具有重要意义。对中国不同地区聋病患者进行全面的遗传学分析，可为其提供有效的遗传咨询。为了评估华南地区家系的突变谱，我们对该人群的非综合征型听力损失进行了基因分析。
对来自中国华南 6 个省份的 701 例非综合征型听力损失的无亲缘关系患者进行了全面的临床评估。每位受试者均进行了常见突变的筛查，包括 SLC26A4 c.IVS7-2A > G、c.2168A > G；线粒体 DNA m.1555A > G、m.1494C > T、m.7444G > A、m.7445A > G；GJB3 c.538C > T、c.547G > A；以及 WFS1 c.1901A > C，采用焦磷酸测序法。使用 Sanger 测序法对 GJB2 和 SLC26A4 编码区突变进行检测。
遗传分析显示，在非综合征型听力损失的病因中，GJB2、SLC26A4 和线粒体 m.1555A > G 突变分别占 18.0%、13.1%和 0.9%。常见突变包括 GJB2 c.235delC、c.109G > A、SLC26A4 c.IVS7-2A > G、c.1229 T > C 和线粒体 m.1555A > G。在华南地区所有受检患者中，总突变率为 45.1%。总的来说，GJB2、SLC26A4 和线粒体 m.1555A > G 对华南地区非综合征型聋病人群的病因明确贡献度为 32.0%。
本研究为华南地区非综合征型听力损失的首次遗传学分析，揭示了明确的遗传病因占该地区患者非综合征型听力病例的 32.0%。华南地区非综合征型听力损失的突变谱为遗传咨询提供了有用的靶向信息。
