Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature review.

ABSTRACT:

Background

Hearing loss (HL) is a heterogeneous condition that causes partial or complete hearing impairment. Hundreds of variants in >60 genes have been reported to be associated with Hereditary HL (HHL), variants of the GJB2 gene are the most common cause of congenital SNHL, with >100 variants reported. The HHL prevalence is thought to be high in the Arab population; however, the genetic epidemiology of HHL among Emirati populations is understudied.

Aims

To shed light on the mutational spectrum of NSHL in Emirati patients seen in the genetic clinic over 10 years and to capture founder mutation(s) if any were identified.

Methods

Retrospective chart review of all Emirati patients assessed by clinical geneticists due to NSHL during the period between January 2010 to De

SUBMITTER: Elsayed O 

PROVIDER: S-EPMC9651598 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature