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Article

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

Genes - 3 Feb 2023

Aboagye Elvis Twumasi, Adadey Samuel Mawuli, Wonkam-Tingang Edmond, Amenga-Etego Lucas, Awandare Gordon A, Wonkam Ambroise

Abstract excerpt

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...

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Identifiers

PMID: 36833326
DOI: 10.3390/genes14020399
PMCID: PMC9957346

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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