Evidence map›Paper›PMID 41876671›Full record

ArticleCommunications medicine2026

Exome sequencing identifies known and candidate genes in hearing impairment in Cameroon.

Ambroise Wonkam, Edmond Wonkam-Tingang, Abdoulaye Yalcouyé, Jean Jacques Noubiap, Seraphin Nguefack, Valentina Josiane Ngo Bitoungui, Lettilia Xhakaza, Kalinka Popel, Thashi Bharadwaj, Rachel Latanich and 7 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Communications medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

17 authors.

Ambroise WonkamMckusick Nathans Institute and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA. awonkam1@jhmi.edu.ORCID http://orcid.org/0000-0003-1420-9051
Edmond Wonkam-TingangChildhood Complex Disease Genomics Section, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Abdoulaye YalcouyéMckusick Nathans Institute and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.
Jean Jacques NoubiapDivision of Cardiology, Department of Medicine, University of San Francisco, San Francisco, CA, USA.
Seraphin NguefackUniversity of Yaoundé I, Faculty of Medicine and Biomedical Sciences, Pediatrics; Yaoundé Gynaeco-Obstetric and pediatric Hospital, Yaounde, Cameroon.
Valentina Josiane Ngo BitounguiFaculty of Medicine and Pharmaceutical Sciences (FMPS), University of Dschang, Dschang, Cameroon.
Lettilia XhakazaMckusick Nathans Institute and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.
Kalinka PopelDivision of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
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.
Cesar A Fortes-LimaMckusick Nathans Institute and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.ORCID http://orcid.org/0000-0002-9310-5009
Carmen de KockDivision of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.
Kevin EsohMckusick Nathans Institute and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA.
Hong ZhangThe Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Isabelle SchrauwenDepartment of Translational Neurosciences, University of Arizona College of Medicine - Phoenix, Phoenix, AZ, USA.
Ulrich MuellerThe Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA.ORCID http://orcid.org/0000-0003-2736-6494
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and Department of Neurology, Columbia University Medical Center, New York, NY, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHearing impairment (HI) is one of the most common sensory disorders globally. There is limited data on the genetics of HI in Africa. We aim to identify the genetic causes of HI in Cameroon.

methodsWe used whole-exome sequencing (WES) to study the cause of HI in multiplex families from Cameroon. Cell-based experiments using HEK293T assessed the pathogenicity of targeted variants, and a knockout mouse model was used to investigate a candidate gene.

resultsHere, we report forty-six multiplex families totaling 106 affected individuals with HI. Most families present with non-syndromic HI (NSHI) (87%, n = 40/46). Causative variants in known genes are identified in 76% (n = 35/46) of families, including nine genes that cause both syndromic HI (SHI) and NSHI, ten that underlie NSHI, and six that cause SHI. MYO15A and TMC1 are the most common genes underlying HI and are observed in six and three families, respectively. Three candidate genes (SUN2, TGM6, and TMC3) are identified. In vitro studies find that a biallelic variant in SUN2 [c.475 G > A:p.(Val159Ile); NM_015374.3] leads to mislocalization and decreased expression in HEK293T cells. In mice, SUN2 protein expression localizes explicitly to the supporting cells of the inner hair cells. Auditory thresholds of the Sun2 knockout mice are comparable to those of wild-type, suggesting that SUN2 is not a credible HI gene.

conclusionThis study reports a high diagnostic rate using WES for HI and highlights the opportunity for variant and gene discoveries in African populations. These findings inform the prospects for gene therapy in HI.

Identifiers

PMID41876671
PMCPMC13249864

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

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.