GJB2 and GJB6 gene mutations found in Indian probands with congenital hearing impairment

J Genet. 2009 Dec;88(3):267-72. doi: 10.1007/s12041-009-0039-5.

Abstract

Genetically caused deafness is a common trait affecting one in 1000 children and is predominantly inherited in an autosomalrecessive fashion. Several mutations in the GJB2 gene and a deletion of 342 kb in GJB6 gene (delGJB6-D13S1830) have been identified worldwide in patients with hearing impairment. In the present study, 303 nonsyndromic hearing-impaired patients (140 familial; 163 sporadic) were examined clinically and screened for mutations in GJB2 and GJB6 genes. Mutations in GJB2 gene were found in 33 (10.9%) patients of whom six (18.2%) were carriers for the mutant allele. The most frequent mutation was p.W24X accounting for 87% of the mutant alleles. In addition, six other sequence variations were identified in the GJB2 gene viz., c.IVS1+1G>A, c.167delT, c.235delC, p.W77X, p.R127H (polymorphism), p.M163V. None of the samples showed del(GJB6-D13S1830) or any point mutations in GJB6 gene.

MeSH terms

  • Adult
  • Case-Control Studies
  • Connexin 26
  • Connexin 30
  • Connexins / genetics*
  • Consanguinity
  • Female
  • Gene Frequency / genetics
  • Hearing Loss / congenital*
  • Hearing Loss / epidemiology
  • Hearing Loss / genetics*
  • Humans
  • India / epidemiology
  • Male
  • Mutation / genetics*
  • Prevalence
  • Young Adult

Substances

  • Connexin 30
  • Connexins
  • GJB2 protein, human
  • GJB6 protein, human
  • Connexin 26