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Human Genetics

, Volume 106, Issue 4, pp 399–405 | Cite as

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
  • Leah J Wilcox
  • RJ McKinlay Gardner
  • Maria Kamarinos
  • Barbara Cone-Wesson
  • Robert Williamson
  • Hans-Henrik M. Dahl
Original Investigation

Abstract.

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 multi-disciplinary 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.

Keywords

Hearing Loss Characteristic Feature Live Birth Mutation Analysis Hearing Impairment 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 2000

Authors and Affiliations

  • Stephen A Wilcox
    • 1
  • Kerryn Saunders
    • 2
  • Amelia H Osborn
    • 1
  • Angela Arnold
    • 1
  • Julia Wunderlich
    • 3
  • Therese Kelly
    • 1
  • Veronica Collins
    • 1
  • Leah J Wilcox
    • 1
  • RJ McKinlay Gardner
    • 1
  • Maria Kamarinos
    • 1
  • Barbara Cone-Wesson
    • 4
  • Robert Williamson
    • 1
  • Hans-Henrik M. Dahl
    • 1
  1. 1.The Murdoch Institute, Royal Children's Hospital, Parkville 3052, Melbourne, Australia
  2. 2.Paediatric Hearing Loss Investigation Clinic, Children's Program and Department of ENT, Head and Neck Surgery, Monash Medical Centre, Southern Healthcare Network & Monash University Department of Paediatrics, Monash Medical Centre, Clayton 3168, Australia
  3. 3.Department of Audiology, Monash Medical Centre, Southern Healthcare Network, Clayton 3168, Australia
  4. 4.Department of Otolaryngology, University of Melbourne, East Melbourne 3002, Melbourne, Australia

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