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.

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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
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article

Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population

Yardena Tenenbaum‐Rakover, Inbal Halabi, Ilana Koren, Lena Sagi‐Dain
Frontiers in Pediatrics
Endoplasmic Reticulum Stress and Disease
article

Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population

Yardena Tenenbaum‐Rakover, Inbal Halabi, Ilana Koren, Lena Sagi‐Dain
article en

Abstract

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.

Frontiers in PediatricsVol. 13
Carmel Medical Center (IL), Clalit Health Services (IL)
Good health and well-being
Openalex Percentile: Top 98%
Endoplasmic Reticulum Stress and Disease
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