A mild form of Wolfram syndrome in the Ashkenazi Jewish population

Publication: wolframsyndrome.wustl.edu | Publication Date: February 1, 2022

Authors: Fumihiko Urano

Abstract

We recently identified a WFS1 gene variant associated with a mild form of Wolfram syndrome in the Ashkenazi Jewish population. This WFS1 gene variant, WFS1 c.1672C>T (p.Arg558Cys) is prevalent in the Jewish population, and 1/30 Jewish people are carriers. We have deposited the data to the public database (https://www.biorxiv.org/content/10.1101/2021.11.07.467657v1). I have been extensively studying this variant and plan to establish a screening program for this variant in the Jewish population. I will discuss more this in my future blogs.

Urano, F. (2022, February 1). A mild form of Wolfram syndrome in the Ashkenazi Jewish population – WFS1 p.Arg558Cys. Washington University School of Medicine in St. Louis. Retrieved February 4, 2024, from https://wolframsyndrome.wustl.edu/a-mild-form-of-wolfram-in-the-jewish-population-wfs1-p-arg558cys/?fbclid=IwAR0xtKnaf3Gnd34YnyfV-5oX9fjH4xaUtMh8_aJAsppRNr-y5J4waLzygX0.