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Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province

Published online by Cambridge University Press:  18 August 2016

L Shi ,
J Chen ,
J Li ,
X Wei  and
X Gao
L Shi
Affiliation:
Department of Otorhinolaryngology, Head and Neck Surgery, Drum Tower Hospital of Nanjing University Medical School, China
J Chen
Affiliation:
Department of Otorhinolaryngology, Head and Neck Surgery, Drum Tower Hospital of Nanjing University Medical School, China
J Li
Affiliation:
Department of Otorhinolaryngology, Head and Neck Surgery, Drum Tower Hospital of Nanjing University Medical School, China
X Wei
Affiliation:
Department of Otorhinolaryngology, Head and Neck Surgery, Drum Tower Hospital of Nanjing University Medical School, China
X Gao*
Affiliation:
Department of Otorhinolaryngology, Head and Neck Surgery, Drum Tower Hospital of Nanjing University Medical School, China
*
Address for correspondence: Prof X Gao, Department of Otorhinolaryngology, Head and Neck Surgery, Drum Tower Hospital of Nanjing University Medical School, Zhongshan Road No. 321, Nanjing 210008, China Fax: +86 139 5182 9819 E-mail: xiagaogao@hotmail.com
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Abstract

Objective:

GJB2 gene mutations are highly prevalent in pre-lingual hearing loss patients from China. Pre-lingual deafness is a sensorineural disorder that can only be treated with cochlear implantation.

Method:

The prevalence of GJB2 gene mutations was examined in 330 randomly selected patients treated with cochlear implantation.

Results:

Overall, 276 patients (83.64 per cent) carried variations in the GJB2 gene. Seventeen different genotypes were identified, including 10 confirmed pathogenic mutations (c.235delC, c.299delAT, c.176del16, p.E47X, p.T123N, p.V167M, p.C218Y, p.T86R, p.V63L and p.R184Q), 3 polymorphisms (p.V27I, p.E114 G and p.I203 T) and 2 unidentified mutations (p.V37I and c.571 T > C).

Conclusion:

A total of 103 patients (31.2 per cent) carried 2 confirmed pathogenic mutations. The frequency of c.235delC was higher than that reported previously in the Jiangsu province. The two novel mutations identified, 69C > G and 501G > A, are likely to be polymorphisms.

Keywords

DeafnessGJB2 Protein, HumanMutationsCochlear Implant
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 130 , Issue 10 , October 2016 , pp. 902 - 906
Copyright
Copyright © JLO (1984) Limited 2016 

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References

1 Pallares-Ruiz, N, Blanchet, P, Mondain, M, Claustres, M, Roux, AF. A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? Eur J Hum Genet 2002;10:72–6Google Scholar
2 Morton, NE. Genetic epidemiology of hearing impairment. Ann N Y Acad Sci 1991;630:16–31 Google Scholar
3 Connexins and deafness. In: http://davinci.crg.es/deafness/index.php [23 July 2016]Google Scholar
4 Kelsell, DP, Dunlop, J, Stevens, HP, Lench, NJ, Liang, JN, Parry, G et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature 1997;387:80–3Google Scholar
5 Bruzzone, R, White, TW, Paul, DL. Connections with connexins: the molecular basis of direct intercellular signaling. Eur J Biochem 1996;238:1–27 CrossRefGoogle ScholarPubMed
6 Wangemann, P. K+ cycling and the endocochlear potential. Hear Res 2002;165:1–9 Google Scholar
7 Dai, P, Yu, F, Han, B, Liu, X, Wang, G, Li, Q et al. GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment. J Transl Med 2009;7:26 Google Scholar
8 Deafness Variation Database. Molecular Otolaryngology and Renal Research Laboratories, University of Iowa. In: http://deafnessvariationdatabase.org/letter/g [11 July 2016]Google Scholar
9 Tekin, M, Xia, XJ, Erdenetungalag, R, Cengiz, FB, White, TW, Radnaabazar, J et al. GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf. Ann Hum Genet 2010;74:155–64Google Scholar
10 Kelley, PM, Harris, DJ, Comer, BC, Askew, JW, Fowler, T, Smith, SD et al. Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet 1998;62:792–9Google Scholar
11 Huang, S, Huang, B, Wang, G, Yuan, Y, Dai, P. The relationship between the p.V37I mutation in GJB2 and hearing phenotypes in Chinese individuals. PLoS One 2015;10:e0129662 Google Scholar
12 Ma, Y, Yang, T, Li, Y, Tao, Z, Huang, Z, Li, X et al. Genotype–phenotype correlation of two prevalent GJB2 mutations in Chinese newborn infants ascertained from the Universal Newborn Hearing Screening Program. Am J Med Genet A 2010;152A:2912–15Google Scholar
13 Oguchi, T, Ohtsuka, A, Hashimoto, S, Oshima, A, Abe, S, Kobayashi, Y et al. Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns. J Hum Genet 2005;50:76–83 Google Scholar
14 Huculak, C, Bruyere, H, Nelson, TN, Kozak, FK, Langlois, S. V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity. Am J Med Genet A 2006;140:2394–400Google Scholar
15 Tekin, M, Akar, N, Cin, S, Blanton, SH, Xia, XJ, Liu, XZ et al. Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians. Hum Genet 2001;108:385–9Google Scholar
16 Morell, RJ, Kim, HJ, Hood, LJ, Goforth, L, Friderici, K, Fisher, R et al. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N Engl J Med 1998;339:1500–5CrossRefGoogle ScholarPubMed