A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.

Autor: Maamouri R; Department of Ophthalmology, Habib Thameur hospital, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Hizem S; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunis, Tunisia., Kammoun I; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Department of endocrinology and metabolic diseases, National Institute 'Zouhair Kallel' of Nutrition, Tunis, Tunisia., Elaribi Y; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunis, Tunisia., Rejeb I; Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunis, Tunisia., Sebai M; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunis, Tunisia., Jilani H; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunis, Tunisia., Rouzier C; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France., Cheour M; Department of Ophthalmology, Habib Thameur hospital, Tunis, Tunisia.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia., Paquis-Flucklinger V; Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France., Ben Jemaa L; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunis, Tunisia.
Jazyk: angličtina
Zdroj: Ophthalmic genetics [Ophthalmic Genet] 2023 Jun; Vol. 44 (3), pp. 304-312. Date of Electronic Publication: 2022 Sep 12.
DOI: 10.1080/13816810.2022.2113546
Abstrakt: Background: Wolfram syndrome type 1 is a rare neurodegenerative disorder including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, with variable additional findings. The phenotypic spectrum is very heterogeneous, with non-autoimmune juvenile-onset diabetes and optic atrophy as minimal criteria for the diagnosis. Biallelic mutations in the WFS1 gene are the causative genetic anomaly for the syndrome, with, however, no evident genotype-phenotype correlation. Among the clinical features of the disease, diabetic retinopathy depicts a rarely reported microvascular complication. In this report, we describe the clinical and genetic findings in a 26-year-old patient presenting with Wolfram syndrome and severe diabetic retinopathy.
Methods: The mutation screening was performed by polymerase chain reaction followed by Sanger sequencing of the entire coding sequence of the WFS1 gene.
Results: A novel homozygous missense variant c.1901A>T (p.Lys634Met) was found in the proband and classified as probably pathogenic according to the American College of Medical Genetics and Genomics.
Conclusions: The molecular study of the WFS1 gene is essential for the diagnostic confirmation, to provide appropriate genetic counseling and a mutational screening in the at-risk relatives. The c.1901A>T (p.Lys634 Met) is a novel variant that could be responsible for a severe form of Wolfram syndrome with early and proliferative diabetic retinopathy.
Databáze: MEDLINE
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