Evidence map›Paper›PMID 39663698›Full record

ArticleHGG advances2025

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.

Abdoulaye Yalcouyé, Isabelle Schrauwen, Oumou Traoré, Salia Bamba, Elvis Twumasi Aboagye, Anushree Acharya, Thashi Bharadwaj, Rachel Latanich, Kevin Esoh, Cesar A Fortes-Lima and 9 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in HGG advances, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–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

1 citing paper in PubMed.

  1. Bi-AllelicInternational journal of molecular sciences · 2025
    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

19 authors.

Abdoulaye YalcouyéFaculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali; Division of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; McKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.
Isabelle SchrauwenCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Oumou TraoréFaculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.
Salia BambaFaculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.
Elvis Twumasi AboagyeDivision of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Anushree AcharyaCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Thashi BharadwajCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Rachel LatanichMcKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.
Kevin EsohDivision of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; McKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.
Cesar A Fortes-LimaMcKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.
Carmen de KockDivision of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Mario JonasDivision of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Alassane Dit Baneye MaigaFaculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.
Cheick A K CisséFaculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.
Moussa A SangaréFaculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.
Cheick O GuintoFaculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali; Service de Neurologie, Centre Hospitalier Universitaire du Point G, Bamako, Mali.
Guida LandouréFaculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali; Service de Neurologie, Centre Hospitalier Universitaire du Point G, Bamako, Mali.
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and Department of Neurology, Columbia University Medical Center, New York, NY, USA.
Ambroise WonkamDivision of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; McKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA. Electronic address: awonkam1@jhmi.edu.

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
NIDCD NIH HHS R01 DC003594NIDCD NIH HHS R01 DC016593
6 · The paper itself

Abstract

Hearing impairment (HI) is the most common neurosensory disorder globally and is reported to be more prevalent in low-income countries. In high-income countries, up to 50% of congenital childhood HI is of genetic origin. However, there are limited genetic data on HI from sub-Saharan African populations. In this study, we investigated the genetic causes of HI in the Malian populations, using whole-exome sequencing. Furthermore, cDNA was transfected into HEK293T cells for localization and expression analysis in a candidate gene. Twenty-four multiplex families were enrolled, 50% (12/24) of which are consanguineous. Clustering methods showed patterns of admixture from non-African sources in some Malian populations. Variants were found in six known nonsyndromic HI (NSHI) genes, four genes that can underlie either syndromic HI (SHI) or NSHI, one SHI gene, and one novel candidate HI gene. Overall, 75% of families (18/24) were solved, and 94.4% (17/18) had variants in known HI genes including MYO15A, CDH23, MYO7A, GJB2, SLC26A4, PJVK, OTOGL, TMC1, CIB2, GAS2, PDCH15, and EYA1. A digenic inheritance (CDH23 and PDCH15) was found in one family. Most variants (59.1%, 13/22) in known HI genes were not previously reported or associated with HI. The UBFD1 candidate HI gene, which was identified in one consanguineous family, is expressed in human inner ear organoids. Cell-based experiments in HEK293T showed that mutants UBFD1 had a lower expression, compared to wild type. We report the profile of known genes and the UBFD1 candidate gene for HI in Mali and emphasize the potential of gene discovery in African populations.

Indexed as

Exome SequencingGenetic Association StudiesGenetic Predisposition to DiseaseHearing LossChildFemaleHEK293 CellsHumansMaleMaliMutationPedigreeadmixture mappingAfricahearing impairmentMaliUBFD1 candidate gene

Identifiers

PMID39663698
PMCPMC11730241

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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.