WFS1 Mutation Frequency 60-fold Higher in Ashkenazi Jewish Individuals – Results in Wolfram Spectrum and Increased Risk for T2DM

Publication: pubmed.ncbi.nlm.nih.gov | Publication Date: July 16, 2018

Authors: Vikas Bansal, Bernhard O Boehm, Ariel Darvasi

Abstract

Aims/hypothesis: Wolfram syndrome is a rare, autosomal recessive syndrome characterised by juvenile-onset diabetes and optic atrophy and is caused by bi-allelic mutations in the WFS1 gene. In a recent sequencing study, an individual with juvenile-onset diabetes was observed to be homozygous for a rare missense variant (c.1672C>T, p.R558C) in the WFS1 gene. The aim of this study was to perform the genetic characterisation of this variant and to determine whether it is causal for young-onset diabetes and Wolfram syndrome.

Bansal, V., Boehm, B. O., & Darvasi, A. (2018). Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals. Diabetologia, 61(10), 2180–2188. Retrieved February 4, 2024, from https://doi.org/10.1007/s00125-018-4690-3.