Recently, I have been receiving questions about a milder form of Wolfram syndrome that is more common in the Ashkenazi Jewish population. To address these inquiries and share insights, I’ve decided to write a series of blogs dedicated to this topic. Over the years, through my research and clinical experience, I have come to understand that Wolfram syndrome represents a spectrum of disorders, with severity ranging from mild to severe.
Patients with the classic form of Wolfram syndrome typically develop diabetes mellitus around the age of 6 and experience optic nerve atrophy, leading to vision problems, around age 11. Alongside these symptoms, many individuals also face challenges with anxiety, depression, and bladder dysfunction.
However, I began noticing a subset of patients who displayed a milder form of the condition, with a later onset of both diabetes and optic nerve atrophy. Interestingly, these patients share the same specific pathogenic variant in the WFS1 gene, WFS1 c.1672C>T (p.Arg558Cys). Furthermore, I discovered that all of these individuals are of Jewish descent, which caught my attention.
This observation sparked my curiosity and led me to dive deeper into studying this unique, milder form of Wolfram syndrome. Through these upcoming blogs, I hope to shed light on this fascinating aspect of the disorder, share findings, and provide valuable information to the community.
Fumihiko (Fumi) URANO, MD, PhD
Samuel E. Schechter Professor of Medicine
Director, Wolfram syndrome and related disorders clinic and study
Washington University Medical Center