Prevalence of the GJB2 IVS1+1G >A mutation in Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2

Journal of Translational Medicine

Research

Yongyi Yuan¹  Fei Yu¹  Xin Zhang¹  Ruili Yu¹  Dongyi Han¹  Shasha Huang¹  Deliang Huang¹  Pu Dai¹  Guojian Wang² 

[1] Department of Otolaryngology, PLA General Hospital, Beijing, People's Republic of China;Department of Otolaryngology, PLA General Hospital, Beijing, People's Republic of China;Department of Otolaryngology, PLA General Hospital, Beijing, People's Republic of China;

关键词: Hearing Loss;    GJB2 Gene;    Nonsyndromic Hearing Loss;    GJB2 Mutation;    Moderate Hearing Loss;   

DOI  :  10.1186/1479-5876-8-127

 received in 2010-09-09, accepted in 2010-12-02,  发布年份 2010

来源: Springer

【 摘 要 】

BackgroundMutations in the GJB2 gene are the most common cause of nonsyndromic recessive hearing loss in China. In about 6% of Chinese patients with severe to profound sensorineural hearing impairment, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity have been identified. This paper reports the prevalence of the GJB2 IVS1+1G>A mutation in a population of Chinese hearing loss patients with monoallelic pathogenic mutation in the coding region of GJB2.MethodsTwo hundred and twelve patients, screened from 7133 cases of nonsyndromic hearing loss in China, with monoallelic mutation (mainly frameshift and nonsense mutation) in the coding region of GJB2 were examined for the GJB2 IVS1+1G>A mutation and mutations in the promoter region of this gene. Two hundred and sixty-two nonsyndromic hearing loss patients without GJB2 mutation and 105 controls with normal hearing were also tested for the GJB2 IVS1+1G>A mutation by sequencing.ResultsFour patients with monoallelic mutation in the coding region of GJB2 were found carrying the GJB2 IVS1+1G>A mutation on the opposite allele. One patient with the GJB2 c.235delC mutation carried one variant, -3175 C>T, in exon 1 of GJB2. Neither GJB2 IVS1+1G>A mutation nor any variant in exon 1 of GJB2 was found in the 262 nonsyndromic hearing loss patients without GJB2 mutation or in the 105 normal hearing controls.ConclusionTesting for the GJB2 IVS 1+1 G to A mutation explained deafness in 1.89% of Chinese GJB2 monoallelic patients, and it should be included in routine testing of patients with GJB2 monoallelic pathogenic mutation.

【 授权许可】

Unknown   
© Yuan et al; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.