Mutational Screening in Congenital Deaf Families of Pakistani Population by Whole Exome Sequencing Analysis

Sumaira Kanwal, Uqba Anwar1,Su

Abstract

Congenital deafness is one of the most common inherited disorder caused by various causes. It can be originated by acquired as well as genetic factors. Consanguinity is one of the most important factor in developing countries for highest prevalence of the disorder. Inherited deafness can be classified into syndromic and non-syndromic categories. Almost 60 genes are responsible for non-syndromic deafness. Three deaf families were selected on the basis of age onset (Prelingual), congenital type and parents with Consanguinity. In current study three deaf Prelingual affected Pakistani families were selected for whole exome sequencing analysis (WES) for identification of pathogenic variant.  Capillary sequencing was used to confirm the mutant variants. In current study a Homozygous missense mutation was found in USH1C (MIM# 605242) c.307C>T (p.Arg103Cys), a homozygous missense mutation P.Ala595Thr c.1783G>A in MYO15A (MIM# 602666) and third was found in TPRN gene MIM# 613354).