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The Diverse Genetic Landscape of Hearing Impairment in South African Families.

Clinical genetics - 1 Nov 2025

Bharadwaj Thashi, Acharya Anushree, Manyisa Noluthando Rearabetswe, Aboagye Elvis Twumasi, Peigou Wonkam Ramses, Xhakaza Lettilia, Popel Kalinka, de Kock Carmen, Schrauwen Isabelle, Wonkam Ambroise, Leal Suzanne M

Abstract excerpt

To elucidate the genetic etiology of hearing impairment (HI) in South Africa, 45 nonsyndromic HI (NSHI) and syndromic HI (SHI) families with ≥ 2 affected members were analyzed. Exome and sanger sequencing were used to identify causal genes. For NSHI, 14 of 24 families segregated variants in NSHI genes, that is, CDH23, GJB2, MITF, MYO7A, MYO15A, PCDH15, POU3F4, REST, SLC26A4, TMPRSS3, and WFS1. For the 21 SHI...

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Adolescent
Child
Deafness
Exome Sequencing
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40371963
DOI: 10.1111/cge.14765
PMCID: PMC12501749

Genes

MITF
MYH9
SLC26A4
BDP1
CDH23
EDN3
EDNRB
EYA1
GJB2
GPSM2
MYO15A
MYO6
MYO7A
PAX3
PCDH15
POU3F4
REST
SLC12A1
TMPRSS3
WFS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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