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Related Experiment Video

Updated: Jun 24, 2026

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss
09:44

Neuro-rehabilitation Approach for Sudden Sensorineural Hearing Loss

Published on: January 25, 2016

[GJB2 gene mutation in deaf patients].

Zhi-yong Xu1, Guo-feng Gao, Chang Liu

  • 1The Second Affiliated Hospital, Jinan University School of Medicine, 518020 People's Republic of China.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics
|April 8, 2009
PubMed
Summary

Genetic mutations in the GJB2 gene were identified in patients with autosomal-recessive deafness. Specific mutations like 235delC and 176del16bp were linked to hearing loss, while others were deemed polymorphisms.

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Area of Science:

  • Genetics
  • Otolaryngology
  • Molecular Biology

Background:

  • Autosomal-recessive deafness is a significant cause of hearing impairment.
  • The GJB2 gene plays a crucial role in cochlear development and function.
  • Identifying GJB2 mutations is key to understanding the genetic basis of deafness.

Purpose of the Study:

  • To detect GJB2 gene mutations in patients diagnosed with autosomal-recessive deafness.
  • To analyze the correlation between the clinical presentation (phenotype) and identified GJB2 gene mutations.

Main Methods:

  • Clinical examination of 42 patients including pure tone audiometry, acoustic impedance, and auditory brainstem response.
  • Amplification of the GJB2 gene's coding region using polymerase chain reaction (PCR).
  • Automatic DNA sequencing of PCR products to identify mutations.

Main Results:

  • Homozygous 235delC mutation found in two patients; one with sensorineural hearing loss, the other with mixed hearing loss.
  • Heterozygous 176del16bp mutation identified in twins presenting with mixed hearing loss.
  • Mutations 109G to A, 79G to A, and 341A to G were present in both patients and controls.

Conclusions:

  • The homozygous 235delC mutation is a pathogenic cause of mixed hearing loss.
  • The heterozygous 176del16bp mutation, potentially in conjunction with environmental factors, may contribute to hearing loss.
  • The GJB2 variants 109G to A, 79G to A, and 341A to G are likely polymorphisms.