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High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss

Published online by Cambridge University Press:  23 June 2008

G Khandelwal ,
S Bhalla ,
M Khullar  and
N K Panda
G Khandelwal
Affiliation:
Department of Otolaryngology and Head and Neck Surgery, Post-Graduate Institute of Medical Education and Research, Chandigarh, India
S Bhalla
Affiliation:
Department of Otolaryngology and Head and Neck Surgery, Post-Graduate Institute of Medical Education and Research, Chandigarh, India
M Khullar
Affiliation:
Department of Experimental Medicine and Biotechnology, Post-Graduate Institute of Medical Education and Research, Chandigarh, India
N K Panda*
Affiliation:
Department of Otolaryngology and Head and Neck Surgery, Post-Graduate Institute of Medical Education and Research, Chandigarh, India
*
Address for correspondence: Dr Naresh K Panda, Department of Otolaryngology and Head and Neck Surgery, Post-Graduate Institute of Medical Education and Research, Chandigarh, India160012. Fax: +91 172 2744401 E-mail: [email protected]
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Abstract

Objective:

To determine the prevalence of GJB2 mutations among subjects with congenital, non-syndromic, sensorineural hearing loss, within a north Indian population.

Materials and methods:

This was a case–control study in which the frequencies of the three most prevalent GJB2 mutations (35delG, W24X and 167delT) were studied. Polymerase chain reaction restriction fragment length polymorphism assays were performed to detect these mutations. The entire coding region of the GJB2 gene was sequenced in all patients, and also in any of their family members who showed GJB2 mutations.

Results:

The 35delG mutation was found to be the most prevalent mutation (21 per cent), followed by the W24X mutation (7 per cent). This is the first report of the 35delG mutation in an Indian population. One patient was a compound heterozygote for 35delG/W24X. The 167delT mutation was not observed in any patient.

Conclusions:

These findings challenge the classical view that the W24X variant of the GJB2 gene represents a single ‘founder’ mutation.

Keywords

Sensorineural Hearing LossCongenitalConnexinsIndia
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 123 , Issue 3 , March 2009 , pp. 273 - 277
Copyright
Copyright © JLO (1984) Limited 2008

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