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Article

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

Molecular genetics & genomic medicine - 1 Nov 2022

Elsayed Omnia, Al-Shamsi Aisha

Abstract excerpt

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...

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PMID: 36056583
DOI: 10.1002/mgg3.2052
PMCID: PMC9651598

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