Global Distribution of Founder Variants Associated with Non-Syndromic Hearing Impairment.

ABSTRACT: The genetic etiology of non-syndromic hearing impairment (NSHI) is highly heterogeneous with over 124 distinct genes identified. The wide spectrum of implicated genes has challenged the implementation of molecular diagnosis with equal clinical validity in all settings. Differential frequencies of allelic variants in the most common NSHI causal gene, gap junction beta 2 (GJB2), has been described as stemming from the segregation of a founder variant and/or spontaneous germline variant hot spots. We aimed to systematically review the global distribution and provenance of founder variants associated with NSHI. The study protocol was registered on PROSPERO, the International Prospective Register of Systematic Reviews, with the registration number "CRD42020198573". Data from 52 reports,

SUBMITTER: Aboagye ET 

PROVIDER: S-EPMC9957346 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature