Evidence map›Paper›PMID 41721951›Full record

ArticleMolecular biology reports2026

Dysferlinopathy due to a homozygous DYSF DysF-domain variant in a non-consanguineous Tunisian family.

Ikhlass Belhassen, Pedro M Rodríguez Cruz, Salma Sakka, Juliette Nectoux, Sawsan Daoued, Chokri Mhiri, France Leturcq, Mariem Dammak

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Article in Molecular biology reports, 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

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Ikhlass BelhassenLaboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Disease (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia. ikhlass_belhassen@medecinesfax.org.
Pedro M Rodríguez CruzCentro Nacional de Análisis Genómico (CNAG-CRG), Center for Genomic Regulation, Barcelona, Spain.
Salma SakkaLaboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Disease (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia.
Juliette NectouxDepartment of Genomic Medicine for System and Organ Diseases, Genetic and Genomic Medicine Federation, Cochin Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.
Sawsan DaouedLaboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Disease (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia.
Chokri MhiriLaboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Disease (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia.
France LeturcqDepartment of Genomic Medicine for System and Organ Diseases, Genetic and Genomic Medicine Federation, Cochin Hospital, Assistance Publique des Hôpitaux de Paris, Paris, France.
Mariem DammakLaboratory of Neurogenetics, Parkinson Disease and Cerebrovascular Disease (LR-12-SP-19), Habib Bourguiba University Hospital, University of Sfax, Sfax, Tunisia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundDysferlinopathies are autosomal recessive neuromuscular disorders caused by pathogenic variants in the DYSF gene, most commonly presenting as limb-girdle muscular dystrophy type R2 (LGMD R2). In this study, we investigated a non-consanguineous Tunisian family with a classical proximal dysferlinopathy phenotype. METHODS AND

resultsTwo affected male siblings underwent comprehensive clinical and biochemical evaluation, lower-limb magnetic resonance imaging (performed in the proband), whole-exome sequencing, Sanger validation, and segregation analysis. A homozygous missense variant in DYSF, c.2998T > C (p.Ser1000Pro), was identified in both affected siblings, with heterozygous carriage confirmed in both parents. This variant has not been assigned a clinical interpretation. Structural modeling revealed localized disruption of the DysF domain of dysferlin, including steric clashes and loss of hydrogen-bond interactions, findings consistent with impaired protein stability and defective membrane repair.

conclusionsThis study provides the first clinical, structural, and ACMG-based interpretation of the DYSF c.2998T > C (p.Ser1000Pro) variant in Tunisian siblings with LGMD R2, thereby expanding the mutational spectrum of dysferlinopathy.

Indexed as

DysferlinMuscular Dystrophies, Limb-GirdleAdultExome SequencingFemaleHomozygoteHumansMagnetic Resonance ImagingMaleMutation, MissensePedigreePhenotypeProtein DomainsSiblingsTunisiaDysferlinDYSF protein, humanDysF domainDysferlinopathyDYSF geneLGMD R2

Identifiers

PMID41721951

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