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Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey

  • Ö Tarkan (a1), P Sari (a1), O Demirhan (a2), M Kiroğlu (a1), Ü Tuncer (a1), Ö Sürmelioğlu (a1), S Özdemir (a1), M B Yilmaz (a2) and K Kara (a1)
  • DOI: http://dx.doi.org/10.1017/S0022215112002587
  • Published online: 22 November 2012
Abstract
AbstractObjective:

Mutations in the genes for connexin 26 (GJB2) and connexin 30 (GJB6) play an important role in autosomal recessive, non-syndromic hearing loss. This study aimed to detect the 35delG and 167delT mutations of the GJB2 gene and the del(GJB6-D13S1830) mutation of the GJB6 gene in paediatric patients diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation in Mediterranean Turkey.

Materials and method:

We included 94 children diagnosed with congenital, non-syndromic hearing loss and treated with cochlear implantation. Blood samples were collected, DNA extracted and an enzyme-linked immunosorbent assay performed to enable molecular diagnosis of mutations.

Results:

Of the 94 children analysed, the 35delG mutation was detected in 12 (12.7 per cent): 10 (83.3 per cent) were homozygous and 2 (16.7 per cent) heterozygous mutant. The 167delT and del(GJB6-D13S1830) mutations were not detected.

Conclusion:

The GJB2-35delG mutation is a major cause of congenital, non-syndromic hearing loss in this study population.

Copyright
Corresponding author
Address for correspondence: Dr Özgür Tarkan, Department of Otolaryngology-Head and Neck Surgery, Faculty of Medicine, Cukurova University, Balcali Hospital,01330 Adana, Turkey Fax: +90 3223386639 E-mail: ozgurtarkan@gmail.com
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