Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

ABSTRACT: Hearing loss affects around 5% of the global population. Two preliminary studies have described genetic variants in sporadic individuals with hearing loss from Pakistan. Here we extend these studies to determine the spectrum of variants in a cohort of individuals with no previous history of hearing loss. Individuals with hearing loss born to consanguineous couples were identified from special schools. Audiograms were assessed. DNA from participants negative for GJB2 pathogenic variants was subjected to exome sequencing. Data were filtered to include variants with frequencies < 0.01 in the public databases. The effects of the missense variants on respective amino acids were analyzed by using PyMol software. Among the 44 participants, hearing loss was moderate for two individuals; 14 exhibit

SUBMITTER: Khan H 

PROVIDER: S-EPMC11399343 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature