a1 Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
a2 Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey
Objective: 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.
(Accepted March 26 2012)
(Online publication November 22 2012)
c1 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: [email protected]
Dr Ö Tarkan takes responsibility for the integrity of the content of the paper
Competing interests: None declared