The classic form of Wolfram syndrome and the Ashkenazi Jewish subtype are both caused by the same specific pathogenic variant in the WFS1 gene, WFS1 c.1672C>T (p.Arg558Cys). Despite their common genetic cause, the two forms of Wolfram manifest very differently — with different severity of symptoms, prognoses and treatments.
Wolfram syndrome is a rare, life-threatening genetic disorder caused largely by pathogenic variants in the Wolfram syndrome 1 (WFS1) gene. Wolfram syndrome is considered a prototype of endoplasmic reticulum (ER) disorders. Recent clinical and genetic findings indicate that Wolfram syndrome is best understood as a spectrum disorder.
Find an extensive list of the symptoms of Jewish Wolfram syndrome here, as well as therapies currently in development here.
Comparing Classic Wolfram and Jewish Wolfram syndrome
