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Novel WFS1 Variants in Two Moroccan Families with Wolfram Syndrome.

Genetic testing and molecular biomarkers - 1 Jun 2024

Bouhouche Ahmed, Sefiani Sara, Charoute Hicham, Houyam Tibar, Bouslam Naima, El Yousfi Fatima-Zahra, Bnouhana Wadi, Benomar Ali, Ouadghiri Fatima-Zahra, Regragui Wafaa

Abstract excerpt

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...

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Identifiers

PMID: 38721948
DOI: 10.1089/gtmb.2023.0550

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