GJB2 gene mutations causing hearing loss in consanguineous Pakistani families

Because of the availability of highly consanguineous population and large family size, Pakistani population has been a rich source for genetic investigations of autosomal recessive disorders such as deafness. In this study, we recruited 20 consanguineous Pakistani families segregating autosomal recessive hearing loss. Sequencing the GJB2 gene revealed six mutations in 10 families which were previously reported to cause genetic deafness in various populations across the world. Seven of these families were homozygous while three were compound heterozygous for two different mutations. The high ratio of compound heterozygosity in these families indicates that GJB2 mutations are prevalent in our population. According to our findings p.Trp24* was found to be the most frequent GJB2 mutation in Pakistan. Therefore, screening our population for this mutation can play a crucial role in lowering down the incidence of hearing loss in Pakistan.