Evidence map›Paper›PMID 42387562›Full record

ArticleHuman genomics2026

Mutational spectrum of SLC26A4 and SLC26A5 associated with hereditary hearing loss in Moroccan families.

Assia Idyahia, Salaheddine Redouane, Fatima Ezzahra Chentoufi, Hicham Charoute, Adil El Hamouchi, Houda Benrahma, Abdelhamid Barakat

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Article in Human genomics, 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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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Assia IdyahiaGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.ORCID http://orcid.org/0009-0007-3441-4948
Salaheddine RedouaneGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco.
Fatima Ezzahra ChentoufiInterdisciplinary Laboratory of Biotechnology and Health, Mohammed VI Higher Institute of Biosciences and Biotechnology, Mohammed VI University of Sciences and Health (UM6SS), Casablanca, Morocco.
Hicham CharouteResearch Unit of Epidemiology, Biostatistics and Bioinformatics, Institut Pasteur du Maroc, Casablanca, Morocco.
Adil El HamouchiGenomic Sequencing Laboratory, Institut Pasteur du Maroc, Casablanca, Morocco.
Houda BenrahmaInterdisciplinary Laboratory of Biotechnology and Health, Mohammed VI Higher Institute of Biosciences and Biotechnology, Mohammed VI University of Sciences and Health (UM6SS), Casablanca, Morocco.
Abdelhamid BarakatGenomics and Human Genetics Laboratory, Institut Pasteur du Maroc, 1 Place Louis Pasteur, 20360, Casablanca, Morocco. hamid.barakat@pasteur.ma.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe solute carrier family 26 (SLC26) encodes multifunctional anion transporters that mediate the transmembrane exchange of monovalent and divalent anions. While pathogenic variants in several SLC26 genes cause inherited disorders, only SLC26A4 and SLC26A5 have been linked to hereditary hearing loss (HHL).

resultsExome sequencing performed in probands from nine unrelated Moroccan families with sensorineural hearing loss identified eight SLC26A4 variants, including previously reported and novel variants, as well as a homozygous canonical splice-site variant in SLC26A5 (c.1311 + 1G > T). Sanger sequencing confirmed co-segregation of all identified variants, and in silico prediction tools consistently supported their pathogenicity. Molecular dynamics simulations performed on three SLC26A4 missense variants (p. Ser353Ala, p. Phe555Cys, and p. Leu582Pro) indicated significant, state-dependent alteration in pendrin's structural stability, suggesting impaired conformational transitions required for efficient Cl⁻/HCO₃⁻ exchange.

conclusionThis study provides a comprehensive molecular characterization of SLC26A4- and SLC26A5-related hearing loss in Moroccan families and significantly expands the mutational landscape of hereditary hearing loss in North Africa.

Indexed as

Hearing Loss, SensorineuralMutationSulfate TransportersExome SequencingFemaleHumansMaleMolecular Dynamics SimulationMoroccoMutation, MissensePedigreeSLC26A4 protein, humanSulfate TransportersExome sequencingHearing lossMolecular dynamics simulationsSLC26A4SLC26A5

Identifiers

PMID42387562
PMCPMC13587510

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