Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

doi:10.1038/s42003-022-03326-8

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Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

Communications biology - 19 Apr 2022

Wonkam Ambroise, Adadey Samuel Mawuli, Schrauwen Isabelle, Aboagye Elvis Twumasi, Wonkam-Tingang Edmond, Esoh Kevin, Popel Kalinka, Manyisa Noluthando, Jonas Mario, deKock Carmen, Nembaware Victoria, Cornejo Sanchez Diana M, Bharadwaj Thashi, Nasir Abdul, Everard Jenna L, Kadlubowska Magda K, Nouel-Saied Liz M, Acharya Anushree, Quaye Osbourne, Amedofu Geoffrey K, Awandare Gordon A, Leal Suzanne M

Abstract excerpt

We investigated hearing impairment (HI) in 51 families from Ghana with at least two affected members that were negative for GJB2 pathogenic variants. DNA samples from 184 family members underwent whole-exome sequencing (WES). Variants were found in 14 known non-syndromic HI (NSHI) genes [26/51 (51.0%) families], five genes that can underlie either syndromic HI or NSHI [13/51 (25.5%)], and one syndromic HI gene...

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PMID: 35440622
DOI: 10.1038/s42003-022-03326-8
PMCID: PMC9019055

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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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