GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

遗传学 等位基因 无义突变 复合杂合度 突变 突变体 等位基因频率 基因 生物 医学 错义突变
作者
Pu Dai,Fei Yu,Bing Han,Xuezhong Liu,Guojian Wang,Qi Li,Yongyi Yuan,Xin Liu,Deliang Huang,Dongyang Kang,Xin Zhang,Huijun Yuan,Kun Yao,Jinsheng Hao,Jia He,Yong He,Youqin Wang,Qing Ye,Youjun Yu,Hongyan Lin,Lijia Liu,Wei Deng,Xiuhui Zhu,Yiwen You,Jinghong Cui,Nongsheng Hou,Xuehai Xu,Jin Zhang,Liang Tang,Song Rendong,Yongjun Lin,Sun Shuanzhu,Ruining Zhang,Hao Wu,Yue-bing Ma,Shanxiang Zhu,Bai-Lin Wu,Dongyi Han,Lee‐Jun C. Wong
出处
期刊:Journal of Translational Medicine [BioMed Central]
卷期号:7 (1) 被引量:179
标识
DOI:10.1186/1479-5876-7-26
摘要

Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups. In order to understand the spectrum and frequency of GJB2 mutations in the Chinese population, the coding region of the GJB2 gene from 2063 unrelated patients with NSHI was PCR amplified and sequenced. A total of 23 pathogenic mutations were identified. Among them, five (p.W3X, c.99delT, c.155_c.158delTCTG, c.512_c.513insAACG, and p.Y152X) are novel. Three hundred and seven patients carry two confirmed pathogenic mutations, including 178 homozygotes and 129 compound heterozygotes. One hundred twenty five patients carry only one mutant allele. Thus, GJB2 mutations account for 17.9% of the mutant alleles in 2063 NSHI patients. Overall, 92.6% (684/739) of the pathogenic mutations are frame-shift truncation or nonsense mutations. The four prevalent mutations; c.235delC, c.299_c.300delAT, c.176_c.191del16, and c.35delG, account for 88.0% of all mutantalleles identified. The frequency of GJB2 mutations (alleles) varies from 4% to 30.4% among different regions of China. It also varies among different sub-ethnic groups. In some regions of China, testing of the three most common mutations can identify at least one GJB2 mutant allele in all patients. In other regions such as Tibet, the three most common mutations account for only 16% the GJB2 mutant alleles. Thus, in this region, sequencing of GJB2 would be recommended. In addition, the etiology of more than 80% of the mutant alleles for NSHI in China remains to be identified. Analysis of other NSHI related genes will be necessary.

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