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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

Published online by Cambridge University Press:  22 November 2012

Ö Tarkan ,
P Sari ,
O Demirhan ,
M Kiroğlu ,
Ü Tuncer ,
Ö Sürmelioğlu ,
S Özdemir ,
M B Yilmaz  and
K Kara
Ö Tarkan*
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
P Sari
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
O Demirhan
Affiliation:
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey
M Kiroğlu
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
Ü Tuncer
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
Ö Sürmelioğlu
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
S Özdemir
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
M B Yilmaz
Affiliation:
Department of Medical Biology and Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey
K Kara
Affiliation:
Department of Otolaryngology-Head and Neck Surgery, Cukurova University, Adana, Turkey
*
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]
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Abstract

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.

Keywords

ConnexinsHearing LossCochlear ImplantsHumansGJB2 Protein, HumanGJB6 Protein, Human
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 127 , Issue 1 , January 2013 , pp. 33 - 37
Copyright
Copyright © JLO (1984) Limited 2012

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