High frequency hearing loss correlated with mutations in the GJB2 gene

Stephen A. Wilcox, Kerryn Saunders, Amelia H. Osborn, Angela Arnold, Julia Wunderlich, Therese Kelly, Veronica Collins, Lean J. Wilcox, R. J. McKinlay Gardner, Maria Kamarinos, Barbara Cone-Wesson, Robert Williamson, Hans Henrik M. Dahl

Research output: Contribution to journalArticlepeer-review

163 Scopus citations


Genetic hearing impairment affects approximately 1/2000 live births. Mutations in one gene, GJB2, coding for connexin 26 cause 10%-20% of all genetic sensorineural hearing loss. Mutation analysis in the GJB2 gene and audiology were performed on 106 families presenting with at least one child with congenital hearing loss. The families were recruited from a hospital-based multidisciplinary clinic, which functions to investigate the aetiology of sensorineural hearing loss in children and which serves an ethnically diverse population. In 74 families (80 children), the aetiology was consistent with non-syndromic recessive hearing loss. Six different connexin 26 mutations, including one novel mutation, were identified. We show that GJB2 mutations cause a range of phenotypes from mild to profound hearing impairment and that loss of hearing in the high frequency range (4000-8000 Hz) is a characteristic feature in children with molecularly diagnosed connexin 26 hearing impairment. We also demonstrate that this type of audiology and high frequency hearing loss is found in a similar-sized group of deaf children in whom a mutation could only be found in one of the connexin 26 alleles, suggesting connexin 26 involvement in the aetiology of hearing loss in these cases. In our study of the M34T mutation, only compound heterozygotes exhibited hearing loss, suggesting autosomal recessive inheritance.

Original languageEnglish (US)
Pages (from-to)399-405
Number of pages7
JournalHuman Genetics
Issue number4
StatePublished - 2000

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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