Evidence map›Paper›PMID 42193970›Full record

ArticleBiomolecules2026

Molecular Characterization of Syndromic Hearing Loss in North African Moroccan Families.

Khawla El Fizazi, Amama Ghaffar, Laila Bouguenouch, Irum Badshah Saleem, Karim Ouldim, Zubair M Ahmed, Mohammed Ridal, Saima Riazuddin

Abstract read
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In one paragraph

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

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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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

8 authors.

Khawla El FizaziLaboratory of Biomedical and Translational Research, Faculty of Medicine, Pharmacy and Dentistry, Sidi Mohamed Ben Abdellah University, Fez 30000, Morocco.
Amama GhaffarDepartment of Otorhinolaryngology-Head & Neck Surgery, University of Maryland, Baltimore, MD 21201, USA.
Laila BouguenouchLaboratory of Biomedical and Translational Research, Faculty of Medicine, Pharmacy and Dentistry, Sidi Mohamed Ben Abdellah University, Fez 30000, Morocco.
Irum Badshah SaleemDepartment of Otorhinolaryngology-Head & Neck Surgery, University of Maryland, Baltimore, MD 21201, USA.
Karim OuldimLaboratory of Biomedical and Translational Research, Faculty of Medicine, Pharmacy and Dentistry, Sidi Mohamed Ben Abdellah University, Fez 30000, Morocco.
Zubair M AhmedDepartment of Otorhinolaryngology-Head & Neck Surgery, University of Maryland, Baltimore, MD 21201, USA.ORCID 0000-0003-2914-4502
Mohammed RidalDepartment of Otorhinolaryngology, Hassan II University Hospital, Fez 30050, Morocco.
Saima RiazuddinDepartment of Otorhinolaryngology-Head & Neck Surgery, University of Maryland, Baltimore, MD 21201, USA.

Funding

Molecular Determinants of Usher Syndrome Disorder in HumansR01DC016295 · NIDCD · UNIVERSITY OF MARYLAND BALTIMORE · PI AHMED, ZUBAIR M. · 2018 to 2022
$2.7M
NIDCD NIH HHS R01DC016295
6 · The paper itself

Abstract

Hearing loss (HL) is a common sensory disorder, with syndromic forms accounting for ~30% of genetic cases. Due to phenotypic and genetic heterogeneity, accurate diagnosis remains challenging. Exome sequencing (ES) offers a powerful tool to uncover the underlying genetic causes. This study aimed to investigate the genetic basis of syndromic hearing loss (SHL) in North African Moroccan patients through ES. Seven individuals with suspected SHL were recruited from Hassan II University Hospital, Fez. After clinical and audiological assessments, ES was performed to identify causal genetic variants. Two of the participating individuals had Usher syndrome, and one each had Cornelia de Lange syndrome, Wolfram syndrome, Jervell and Lange-Nielsen syndrome, CHARGE syndrome, and Waardenburg syndrome. The causes of all these syndromes were determined, with pathogenic variants in

Indexed as

Hearing LossAdolescentAdultChildExome SequencingFemaleHumansMaleMoroccoMutationMyosin VIIaNorth African PeoplePedigreeMYO7A protein, humanMyosin VIIaexome sequencing (ES)genetic heterogeneityNorth African populationsyndromic hearing loss (SHL)

Identifiers

PMID42193970
PMCPMC13204930

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Registered trials

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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.