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      https://www.ias.ac.in/article/fulltext/jgen/088/03/0267-0272

    • Keywords

       

      deafness; GJB2; GJB6; p.W24X mutation; del(GJB6-D13S1830); connexin; human genetics.

    • Abstract

       

      Genetically caused deafness is a common trait affecting one in 1000 children and is predominantly inherited in an autosomal-recessive 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.

    • Author Affiliations

       

      G. Padma1 P. V. Ramchander2 U. V. Nandur3 T. Padma1

      1. Department of Genetics, Osmania University, Tarnaka, Hyderabad 500 007, India
      2. Institute of Life Sciences, Nalco Square, Bhubaneswar 751 023, India
      3. Government Ear, Nose and Throat Hospital, Koti, Hyderabad 500 195, India
    • Dates

       
  • Journal of Genetics | News

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