Evidence map›Paper›PMID 40371963›Full record

ArticleClinical genetics2025

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

Thashi Bharadwaj, Anushree Acharya, Noluthando Rearabetswe Manyisa, Elvis Twumasi Aboagye, Ramses Peigou Wonkam, Lettilia Xhakaza, Kalinka Popel, Carmen de Kock, Isabelle Schrauwen, Ambroise Wonkam and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Genetics of Waardenburg Syndrome in Africa: A Systematic Review.International journal of molecular sciences · 2025
    Pooled it
  2. Novel splice-site variants inFrontiers in genetics · 2026
    Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Thashi BharadwajCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.
Anushree AcharyaCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.
Noluthando Rearabetswe ManyisaDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Elvis Twumasi AboagyeDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Ramses Peigou WonkamDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.ORCID 0000-0001-9294-476X
Lettilia XhakazaDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Kalinka PopelDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Carmen de KockDepartment of Medicine, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Isabelle SchrauwenCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.
Ambroise WonkamDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.ORCID 0000-0003-1420-9051
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.

Funding

Identification of Nonsyndromic Hearing Impairment GenesR01DC003594 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SUZANNE M LEAL · 2004 to 2026
$7.7M
Identification and Functional Evaluation of Autosomal Recessive Nonsyndromic Hearing Impairment Genes in sub-Saharan AfricansR01DC016593 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEAL, SUZANNE M · 2018 to 2022
$2.7M
National Institutes of Health (NIH)-National Institute of Deafness and other DisordersNIDCD NIH HHS R01 DC003594NIDCD NIH HHS R01 DC016593
6 · The paper itself

Abstract

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 families, 14 have Waardenburg syndrome, two Branchio-Oto-Renal syndromes, and one each with Bartter, Chudley-McCullough, Deafness-Albinism, MYH9-related disorder, and Pendred syndromes. The cause of SHI was determined for 14 families, with EDN3, EDNRB, GPSM2, MITF, MYH9, SLC12A1, and SLC26A4 underlying the syndrome in a single family, EYA1 in two families, and PAX3 in five families. For the NSHI and SHI genes, 52.9% and 35.7% of the variants, respectively, have not been reported in disease etiology. Additionally, two Waardenburg families segregated variants in NSHI genes, BDP1 and MYO6, but these findings need to be validated. This study enhances the understanding of the genetic landscape of HI in South Africa, revealing a high level of locus and allelic heterogeneity. Studying diverse populations provides new insights into HI etiology that, in turn, can improve genetic diagnosis and personalized management.

Indexed as

Genetic Predisposition to DiseaseHearing LossAdolescentAdultChildDeafnessExome SequencingFemaleHumansMaleMutationPedigreeSouth Africaexome sequencinggenetic heterogeneitynonsyndromic and syndromic hearing impairmentSouth Africa

Identifiers

PMID40371963
PMCPMC12501749

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.