Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

ABSTRACT:

Background

Hearing loss is the most common sensory defect, and it affects over 6% of the population worldwide. Approximately 50-60% of hearing loss patients are attributed to genetic causes. Currently, more than 100 genes have been reported to cause non-syndromic hearing loss. It is possible and efficient to screen all potential disease-causing genes for hereditary hearing loss by whole exome sequencing (WES).

Methods

We collected 5 consanguineous pedigrees from Pakistan with hearing loss and applied WES in selected patients for each pedigree, followed by bioinformatics analysis and Sanger validation to identify the causal genes.

Results

Variants in 7 genes were identified and validated in these pedigrees. We identified single candidate variant for 3 pedigrees: GIPC3

SUBMITTER: Zhou Y 

PROVIDER: S-EPMC7368710 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature