Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss

L. Bason, T. Dudley, K. Lewis, U. Shah, W. Potsic, A. Ferraris, P. Fortina, E. Rappaport, Ian D. Krantz

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations in the Connexin 26 (Cx26) gene have been found to account for approximately 20% of all childhood deafness. This number approaches 50% in documented recessive cases of hearing loss. Two mutations, 35delG and 167delT, account for the majority of reported mutations in this gene, but to date, more than 60 mutations have been described. No other single gene has yet been identified that contributes this significantly to the aetiology of hearing loss. Several mutations in this gene have been found to predominate in specific ethnic populations (167delT in Ashkenazi Jews and 235delC in Japanese individuals). While the majority of mutations found in Cx26 result in frame shifts and premature terminations, a number of missense mutations have also been identified. The V37I missense mutation has been reported as both a polymorphism and as a potentially disease-causing missense mutation. The present authors have identified three unrelated individuals with sensorineural hearing loss who are homozygous for this mutation. One individual is of Philippine ancestry, another is from a Chinese and Cambodian background, while the third is of Chinese ancestry, raising the possibility that this mutation may be more frequent among populations in eastern Asia.

Original languageEnglish
Pages (from-to)459-464
Number of pages6
JournalClinical Genetics
Volume61
Issue number6
DOIs
Publication statusPublished - Jun 1 2002

Keywords

  • Connexin 26
  • Deafness
  • Missense mutation
  • Pyrosequencing
  • Sensorineural hearing loss
  • V37I

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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