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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: [email protected]
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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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