Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population

Abstract

Autosomal recessive non-syndromic hearing loss (ARNSHL) is a public health concern in the Iranian population, with an incidence of 1 in 166 live births. In the present study, the whole exome sequencing (WES) method was applied to identify the mutation spectrum of NSHL patients negative forGJB2gene mutations. First, using ARMS PCR followed by Sanger sequencing of theGJB2gene, 63.15% of mutations in patients with NSHL were identified. Among the identified mutations inGJB2:p.Val43Met and p.Gly21Arg were novel. The remaining patients were subjected to WES, which identified novel mutations includingMYO15A:p.Gly39LeufsTer188,ADGRV1:p.Ser5918ValfsTer23,MYO7A: c.5856+2T>c (splicing mutation),FGF3:p.Ser156Cys. The present study emphasized the application of WES as an effective method for molecular diagnosis of NSHL patients negative forGJB2gene mutations in the Iranian population.