GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

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• 作者：Pu Dai (1)
  Fei Yu (1)
  Bing Han (1)
  Xuezhong Liu (3)
  Guojian Wang (1)
  Qi Li (1)
  Yongyi Yuan (1)
  Xin Liu (1)
  Deliang Huang (1)
  Dongyang Kang (1)
  Xin Zhang (1)
  Huijun Yuan (1)
  Kun Yao (4)
  Jinsheng Hao (5)
  Jia He (6)
  Yong He (7)
  Youqin Wang (8)
  Qing Ye (8)
  Youjun Yu (9)
  Hongyan Lin (10)
  Lijia Liu (11)
  Wei Deng (12)
  Xiuhui Zhu (13)
  Yiwen You (14)
  Jinghong Cui (14)
  Nongsheng Hou (15)
  Xuehai Xu (16)
  Jin Zhang (17)
  Liang Tang (17)
  Rendong Song (18)
  Yongjun Lin (18)
  Shuanzhu Sun (19)
  Ruining Zhang (20)
  Hao Wu (21)
  Yuebing Ma (22)
  Shanxiang Zhu (23)
  Bai-lin Wu (24)
  Dongyi Han (1)
  Lee-Jun C Wong (2)
  
• 刊名：Journal of Translational Medicine
• 出版年：2009
• 出版时间：December 2009
• 年：2009
• 卷：7
• 期：1
• 全文大小：1347KB
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• 作者单位：Pu Dai (1)
  Fei Yu (1)
  Bing Han (1)
  Xuezhong Liu (3)
  Guojian Wang (1)
  Qi Li (1)
  Yongyi Yuan (1)
  Xin Liu (1)
  Deliang Huang (1)
  Dongyang Kang (1)
  Xin Zhang (1)
  Huijun Yuan (1)
  Kun Yao (4)
  Jinsheng Hao (5)
  Jia He (6)
  Yong He (7)
  Youqin Wang (8)
  Qing Ye (8)
  Youjun Yu (9)
  Hongyan Lin (10)
  Lijia Liu (11)
  Wei Deng (12)
  Xiuhui Zhu (13)
  Yiwen You (14)
  Jinghong Cui (14)
  Nongsheng Hou (15)
  Xuehai Xu (16)
  Jin Zhang (17)
  Liang Tang (17)
  Rendong Song (18)
  Yongjun Lin (18)
  Shuanzhu Sun (19)
  Ruining Zhang (20)
  Hao Wu (21)
  Yuebing Ma (22)
  Shanxiang Zhu (23)
  Bai-lin Wu (24)
  Dongyi Han (1)
  Lee-Jun C Wong (2)
  
  1. Department of Otolaryngology and Genetic Testing Center for Deafness, Chinese PLA General Hospital, 100853, Beijing, PR China
  3. Department of Otolaryngology, University of Miami, 33136, Miami, FL, USA
  4. Department of Otolaryngology, Fuyang People's Hospital, 157011, Fuyang, Anhui, PR China
  5. Department of Otolaryngology, Beijing Children's Hospital, 100045, Beijing, PR China
  6. Department of Health Statistics, Second Military Medical University, Shanghai, PR China
  7. Department of Otolaryngology, Fuzhou Second People's Hospital, 528000, Fuzhou, Fujian, PR China
  8. Center of Hearing Rehabilitation, Guizhou People's Hospital, 550002, Guiyang, Guizhou, PR China
  9. Department of Otolaryngology, Foshan First People's Hospital, 528041, Foshan, Guangdong, PR China
  10. Department of Otolaryngology, Anyang Stomatology Hospital, 455000, Anyang, Henan, PR China
  11. Department of Otolaryngology, Mudanjiang First People's Hospital, 157011, Mudanjiang, Heilongjiang, PR China
  12. Department of Otolaryngology, PLA 161st Hospital, 430010, Wuhan, Hubei, PR China
  13. Department of Otolaryngology, Chifeng Second People's Hospital, 024000, Chifeng, Inner Mongolia, PR China
  14. Department of Otolaryngology, Affiliated Hospital of Nantong University, 226001, Nantong, Jiangsu, PR China
  15. Department of Otolaryngology, Affiliated Hospital of Beihua University,Jilin, 132011, Jilin, PR China
  16. Department of Otolaryngology Head&neck Surgery, General Hospital of Lanzhou Area Command, 730050, Lanzhou, Gansu, PR China
  17. Department of Otolaryngology, Urumchi People's Hospital, 830001, Urumchi, Xinjiang, PR China
  18. Department of Otolaryngology, Zhuozhou Second Central Hospital, 072750, Zhuozhou, Hebei, PR China
  19. Department of Otolaryngology, Datong Third People's Hospital, 037008, Datong, Shanxi, PR China
  20. Department of Otolaryngology, Yuncheng Central Hospital, 044000, Yuncheng, Shanxi, PR China
  21. Department of Otolaryngology Head & Neck Surgery, Affiliated Xinhua Hospital of Shanghai Jiao Tong University, 200092, Shanghai, PR China
  22. Department of Otolaryngology, General Hopital of Tibet Area Command, 850000, Tibet, Lhasa, PR China
  23. Institute of Geriatrics, Chinese PLA General Hospital, 100853, Beijing, PR China
  24. Division of Genetics and Metabolism, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts, USA
  2. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
  

文摘

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.