Abstract
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 language | English |
|---|---|
| Article number | 26 |
| Journal | Journal of Translational Medicine |
| Volume | 7 |
| DOIs | |
| State | Published - Apr 14 2009 |
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ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)
- Medicine(all)
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GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment. / Dai, Pu; Yu, Fei; Han, Bing; Liu, Xue Z; Wang, Guojian; Li, Qi; Yuan, Yongyi; Liu, Xin; Huang, Deliang; Kang, Dongyang; Zhang, Xin; Yuan, Huijun; Yao, Kun; Hao, Jinsheng; He, Jia; He, Yong; Wang, Youqin; Ye, Qing; Yu, Youjun; Lin, Hongyan; Liu, Lijia; Deng, Wei; Zhu, Xiuhui; You, Yiwen; Cui, Jinghong; Hou, Nongsheng; Xu, Xuehai; Zhang, Jin; Tang, Liang; Song, Rendong; Lin, Yongjun; Sun, Shuanzhu; Zhang, Ruining; Wu, Hao; Ma, Yuebing; Zhu, Shanxiang; Wu, Bai Lin; Han, Dongyi; Wong, Lee Jun C.
In: Journal of Translational Medicine, Vol. 7, 26, 14.04.2009.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment
AU - Dai, Pu
AU - Yu, Fei
AU - Han, Bing
AU - Liu, Xue Z
AU - Wang, Guojian
AU - Li, Qi
AU - Yuan, Yongyi
AU - Liu, Xin
AU - Huang, Deliang
AU - Kang, Dongyang
AU - Zhang, Xin
AU - Yuan, Huijun
AU - Yao, Kun
AU - Hao, Jinsheng
AU - He, Jia
AU - He, Yong
AU - Wang, Youqin
AU - Ye, Qing
AU - Yu, Youjun
AU - Lin, Hongyan
AU - Liu, Lijia
AU - Deng, Wei
AU - Zhu, Xiuhui
AU - You, Yiwen
AU - Cui, Jinghong
AU - Hou, Nongsheng
AU - Xu, Xuehai
AU - Zhang, Jin
AU - Tang, Liang
AU - Song, Rendong
AU - Lin, Yongjun
AU - Sun, Shuanzhu
AU - Zhang, Ruining
AU - Wu, Hao
AU - Ma, Yuebing
AU - Zhu, Shanxiang
AU - Wu, Bai Lin
AU - Han, Dongyi
AU - Wong, Lee Jun C
PY - 2009/4/14
Y1 - 2009/4/14
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=65649116240&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=65649116240&partnerID=8YFLogxK
U2 - 10.1186/1479-5876-7-26
DO - 10.1186/1479-5876-7-26
M3 - Article
C2 - 19366456
AN - SCOPUS:65649116240
VL - 7
JO - Journal of Translational Medicine
JF - Journal of Translational Medicine
SN - 1479-5876
M1 - 26
ER -