GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

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 LinLijia Liu, Wei Deng, Xiuhui Zhu, Yiwen You, Jinghong Cui, Nongsheng Hou, Xuehai Xu, Jin Zhang, Liang Tang, Rendong Song, Yongjun Lin, Shuanzhu Sun, Ruining Zhang, Hao Wu, Yuebing Ma, Shanxiang Zhu, Bai Lin Wu, Dongyi Han, Lee Jun C. Wong

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157 Scopus citations


Background: 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. Methods: 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. Results: 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. Conclusion: 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.

Original languageEnglish (US)
Article number26
JournalJournal of translational medicine
StatePublished - Apr 14 2009

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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