Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.

ABSTRACT:

Background

Hearing loss is a rare hereditary deficit that is rather common among consanguineous populations. Autosomal recessive non-syndromic hearing loss is the predominant form of hearing loss worldwide. Although prevalent, hearing loss is extremely heterogeneous and poses a pitfall in terms of diagnosis and screening. Using next-generation sequencing has enabled a rapid increase in the identification rate of genes and variants in heterogeneous conditions, including hearing loss. We aimed to identify the causative variants in two consanguineous Yemeni families affected with hearing loss using targeted next-generation sequencing (clinical exome sequencing). The proband of each family was presented with sensorineural hearing loss as indicated by pure-tone audiometry results.

Re

SUBMITTER: Asaad M 

PROVIDER: S-EPMC10186809 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature