Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population
This is the first report of a founder pathogenic variant in the <i>WFS1</i> gene in the Druze population in Israel. Our findings imply that molecular analysis is warranted in children presenting with DM and negative pancreatic antibodies. The identified variant should be considered for genetic testing in individuals of Druze ancestry diagnosed with young-onset non-autoimmune diabetes. Early diagnosis of WS is important for therapeutic approaches, especially since novel medications are becoming available.
Authors
- Yardena Tenenbaum‐Rakover (ORCID: https://orcid.org/0000-0002-7788-6079)
- Inbal Halabi
- Ilana Koren (ORCID: https://orcid.org/0000-0001-9063-4178)
- Lena Sagi‐Dain (ORCID: https://orcid.org/0000-0002-0883-2130)
Institutions
- Carmel Medical Center (IL)
- Clalit Health Services (IL)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-01-29
- DOI
- https://doi.org/10.3389/fped.2025.1525846
- Primary Topic
- Endoplasmic Reticulum Stress and Disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00