Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey
Copyright policy )Connexin 26 and 30 mutations in paediatric patients with congenital, non-syndromic hearing loss treated with cochlear implantation in Mediterranean Turkey
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 theGJB2gene and the del(GJB6-D13S1830) mutation of theGJB6gene 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.
- Cukurova University Turkey
Male, Adolescent, Genotype, Turkey, Enzyme-Linked Immunosorbent Assay, Polymerase Chain Reaction, Connexins, Gene Frequency, GJB6 Protein, Human, Connexin 30, Humans, Child, Hearing Loss, Retrospective Studies, GJB2 Protein, Human, Infant, DNA, Cochlear Implantation, Connexin 26, Cochlear Implants, Child, Preschool, Mutation, Female
Male, Adolescent, Genotype, Turkey, Enzyme-Linked Immunosorbent Assay, Polymerase Chain Reaction, Connexins, Gene Frequency, GJB6 Protein, Human, Connexin 30, Humans, Child, Hearing Loss, Retrospective Studies, GJB2 Protein, Human, Infant, DNA, Cochlear Implantation, Connexin 26, Cochlear Implants, Child, Preschool, Mutation, Female
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