A Novel Compound Heterozygous Mutation (35delg, 363delc) in the Connexin 26 Gene Causes Non-Syndromic Autosomal Recessive Hearing Loss
oleh: Habib Onsori, Mohammad Rahmati, Davood Fazli
| Format: | Article |
|---|---|
| Diterbitkan: | Tehran University of Medical Sciences 2014-08-01 |
Deskripsi
Mutations in the Connexin 26 (Cx26) gene are a common cause of hereditary hearing loss in different populations. In the present study, an Iranian patient with bilateral hearing loss underwent molecular analysis for the causative mutation. DNA studies were performed for the Cx26 gene by PCR and sequencing methods. We describe a novel compound heterozygous mutation (35delG, 363delC) in the Cx26 gene that is strongly associated with congenital non-syndromic hearing loss (NSHL).