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Connexin 26 (GJB2) Mutations Associated with Non-Syndromic Hearing Loss (NSHL).

Shivani MishraHimani PandeyPriyanka SrivastavaKausik MandalShubha R Phadke
Published in: Indian journal of pediatrics (2018)
Connexin 26 (GJB2) mutations are responsible for 19.4% of NSHL in Indian population. The c.71G > A(W24X) and c.35delG were the most prevalent GJB2 mutations accounting for 72.2% (234 of 324 total mutated alleles from 7 studies) and 15.4% (50 of 324 total mutated alleles from 7 studies) respectively. Thus, screening of these two common mutations in GJB2 gene by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) would greatly help in providing easy genetic diagnosis and help in genetic counseling of the families with NSHL.
Keyphrases
  • hearing loss
  • genome wide
  • copy number
  • dna methylation
  • autism spectrum disorder
  • wild type