GJB2 gene mutations in Syrians with sensorineural hearing loss

Abstract

Purpose: Hearing loss affects one in every 500 newborns. Approximately 50% of these cases have a genetic cause. Mutations in GJB2 are responsible for most cases of nonsyndromic recessive deafness in many populations. The aim of this study is to determine the prevalence of GJB2 gene mutations in a sample of patients with hearing loss from Syria. Patients and methods: Forty-one patients with sensorineural hearing loss were included in the study. Direct DNA sequencing was used to analyze exon 2 of the GJB2 gene. Results: Seven patients (17.07%) had at least one mutation. Five of these (71.43%) had the 35delG mutation, of which three were homozygous, whereas the other two cases were heterozygous. The other detected mutations were W77R in one case and 167delT with R184P mutations that together occurred as compound heterozygous in another case. Conclusion: Screening of the GJB2 gene must be considered in the evaluation of patients with hearing loss in Syria. The variable mutation types found may indicate the genetic heterogeneity of the Syrian population.

Keywords: Connexin 26, 35delg, GJB2, Hearing Loss, Syria