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E-Book 3rd Congress

  • Molecular analysis of GJB2 (connexin 26) and GJB6 (connexin 30) gene mutations in non-syndromic hereditary deafness in Torbat-Jam from South Khorasan Razavi
  • Tayebeh Hamzehloei,1,* Faeze Khaghani,2
    1. Mashhad university of medical sciences, medical genetics department, Mashhad-Iran
    2. Mashhad university of medical sciences, medical genetics department, Mashhad-Iran


  • Introduction: Introduction: The most common inherited sensory disorder that affects I in 1 000 children is severe hearing loss. There are two genes linked to DFNB 1, GJB2 and GJB6, which are the major genetic cause of non-syndromic autosomal recessive deafness. The specific aim of this study was to determine the role of GJB2 and GJB6 in deafness within the Torbat-Jam patients in South Khorasan-Razavi.
  • Methods: Methods: A total of 44 families were recruited and divided into either the familial or sporadic study group, which consisted of 16 and 28 families, respectively. To achieve the aims of this study, polymerase chain reaction (PCR) amplification followed by automated DNA sequencing of the coding regions of GJB2 and GJB6 was performed.
  • Results: Results : In total, six previously reported mutations (35delG, 312de1l4, W24X, M34T, V37I and W44X), and polymorphisms (V27I, A40A, R127H and V153I) were detected in GJB2. In the GJB6 gene only the S199T polymorphism was observed.
  • Conclusion: conclusion: It was determined that the most common mutations found within the Torbat-Jam patients were 35delG and 312de1l4 of GJB2. An overall detection rate of 35% was achieved in non-syndromic autosomal recessive deafness amongst this patient cohort. This study therefore, provides information that can be used in the formulation of a screening program for non-syndromic autosomal recessive deafness specific
  • Keywords: mutation detection, GJB2, GJB6