Connexin 26 (GJB2) Mutations Associated with Congenital Hearing Loss in a Country of Different Migration Routes:...

To determine the prevalence of DFNB1 mutations containing GJB2 (connexin 26) genes with deletion 35delG mutation in congenital hearing loss, and to analyze this gene according to regional differences based on geographic and socio-economic relations in Turkish patients in Istanbul. Our study includes 51 unrelated children with non-syndromic sensorineural hearing impairment with the proof of clinical ABR results. Molecular studies were performed using PCR- Mediated Site-Directed Mutagenesis assay, PCR and direct sequencing to screen for GJB2 and 35delG mutations. Genomic DNA is obtained from the peripheral blood which is taken using a Qiagen DNA isolation kit. GJB2-35delG mutations were found in 25.5% of the patients; 19.6% were homozygous, 5.8% were heterozygous. The ratio of 35delG mutation detected in the children of families with consanguineous marriages and not; were 18.5% (n = 5) and 33.3% (n = 8) of cases respectively. The 35delG mutations in the patients whose father and mother were both from the Black Sea region were 43.18% (n = 19). Our results show that 35delG mutation is at a high frequency in our country, although it is more common in children of parents from the Black Sea region. Screening for the 35delG mutation in the GJB2 gene is the best choice for early diagnosis and emergency response plans for treatment and rehabilitation.