Accepted_test

Rare variants in WFS1 gene in patients with young-onset diabetes

by Dinara Ivanoshchcuk | Federal Research Center, Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences

Abstract ID: 385

Event: BGRS-abstracts

Sections: [Sym 9] Section “Gene expression and human diseases”

Wolfram-like syndrome or WFLS (OMIM# 614296) is a rare endocrine disorder characterized by an autosomal dominant inheritance, and it is characterized by diabetes mellitus, optic atrophy, and progressive hearing impairment. Clinically, the disease is similar to autosomal recessive Wolfram syndrome, but with a milder phenotype. In this study, we performed a screening for rare variants of the WFS1 gene in patients with young-onset diabetes using next-generation sequencing. We identified 2 unrelated patients with young-onset diabetes who were heterozygous for a variants (c.1124G>A (p.Arg375His) and c.1336A>C (p.Ser446Arg)) of uncertain significance in the WFS1 gene. Molecular diagnostics is a necessary step in the clinical diagnosis of monogenic forms of diabetes, especially for family screening of individuals with borderline or moderate carbohydrate metabolism disorders.