Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.

ABSTRACT:

Background

Molecular diagnostic rates for hereditary hearing loss vary by genetic ancestry, highlighting the importance of population-specific studies. In Pakistan, where consanguineous marriages are prevalent, genetic research has identified many autosomal recessive genes, advancing understanding of rare and novel hearing loss mechanisms. This study aimed to identify pathogenic genetic variants in 31 families from Azad Kashmir, Pakistan, presenting non-syndromic hearing loss.

Methods

We conducted exome sequencing and bioinformatics analysis, and targeted gene sequencing on 31 Pakistani families with hearing loss.

Results

We identified ten pathogenic, three likely pathogenic variants, and one variant of uncertain significance, comprising six nonsense, four missense, t

SUBMITTER: Shadab M 

PROVIDER: S-EPMC12227476 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature