Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome.

Autor:	Bouhouche A; Research Team in Neurology and Neurogenetics, Center of Genomics of Human Pathologies, Medical School and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco.; Department of Neurology and Neurogenetics, Specialties Hospital, CHU Ibn Sina, Rabat, Morocco., Sefiani S; Department of Neurology and Neurogenetics, Specialties Hospital, CHU Ibn Sina, Rabat, Morocco., Charoute H; Research Unit of Epidemiology, Biostatistics and Bioinformatics, Institut Pasteur du Maroc, Casablanca, Morocco., Houyam T; Research Team in Neurology and Neurogenetics, Center of Genomics of Human Pathologies, Medical School and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco.; Department of Neurology and Neurogenetics, Specialties Hospital, CHU Ibn Sina, Rabat, Morocco., Bouslam N; Department of Neurology and Neurogenetics, Specialties Hospital, CHU Ibn Sina, Rabat, Morocco., El Yousfi FZ; Research Team in Neurology and Neurogenetics, Center of Genomics of Human Pathologies, Medical School and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco., Bnouhana W; Research Team in Neurology and Neurogenetics, Center of Genomics of Human Pathologies, Medical School and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco.; Department of Neurology and Neuropsychology, Specialties Hospital, CHU Ibn Sina, Rabat, Morocco., Benomar A; Research Team in Neurology and Neurogenetics, Center of Genomics of Human Pathologies, Medical School and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco.; Department of Neurology and Neurogenetics, Specialties Hospital, CHU Ibn Sina, Rabat, Morocco., Ouadghiri FZ; Research Team in Neurology and Neurogenetics, Center of Genomics of Human Pathologies, Medical School and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco., Regragui W; Research Team in Neurology and Neurogenetics, Center of Genomics of Human Pathologies, Medical School and Pharmacy, University Mohammed V in Rabat, Rabat, Morocco.; Department of Neurology and Neurogenetics, Specialties Hospital, CHU Ibn Sina, Rabat, Morocco.
Jazyk:	angličtina
Zdroj:	Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2024 Jun; Vol. 28 (6), pp. 257-262. Date of Electronic Publication: 2024 May 09.
DOI:	10.1089/gtmb.2023.0550
Abstrakt:	Background: Wolfram syndrome (WFS) is an autosomal recessive disorder that often leads to diabetes, optic atrophy, and sensorineural hearing loss. The aim of this study was to determine the clinical characteristics and the genetic cause of the first two Moroccan families presenting with WFS. Methods: The clinical features of five members of two WFS families were evaluated. Whole-exome sequencing was conducted to explore the underlying genetic cause in the affected patients. Results: Two homozygous variants in the WFS1 gene were identified, each in one of the two families studied: a missense c.1329C>G variant (p.Ser443Arg) and a nonsense mutation c.1113G>A (p.Trp371Ter). These variants affected conserved amino acid residues, segregated well in the two families, and are absent from genetic databases and in controls of Moroccan origin. Bioinformatics analysis classified the two variants as pathogenic by in silico tools and molecular modeling. Conclusion: Our study identified for the first time two variants in Moroccan patients with WFS that extends the mutational spectrum associated with the disease.
Databáze:	MEDLINE
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