Type 2 Diabetes Mellitus or Maturity Onset Diabetes in the Young Due to Wolfram Syndrome Gene-1 Mutation—A Perplexing Case
Year: 2025
Type: article
Study design: Case Report
Abstract: Background/Objective: Maturity Onset Diabetes in the Young (MODY) is the most common form of monogenic diabetes caused by various single gene mutations. We present a patient with presumed type 2 diabetes mellitus (T2DM), ultimately diagnosed with MODY due to heterozygous Wolfram Syndrome 1 (WFS1) gene mutation. Case Description: , MODY testing was done. This revealed one variant of uncertain significance in the WFS1 gene (NM_006005.3:c.2026C > T; p.Arg676Cys; heterozygous) not previously described in literature. Discussion: MODY is a known but uncommon cause of diabetes in young adults. While mutations in HNF1A, GCK, and HNF4A are commonly associated with MODY, rare mutations such as the WFS1 gene mutation should be considered. Our patient's WFS1 mutation (NM_006005.3:c.2026C > T; p.Arg676Cys; heterozygous) has not been reported in literature. Conclusion: Young adults with family history of diabetes and normal BMI should be evaluated for MODY when diagnosed with diabetes. A complete mutation panel for MODY should be done to evaluate for lesser-known mutations such as the WFS1 gene mutation.
Source: AACE Endocrinology and Diabetes
Author: Pranjali P. Sharma
Institution: Scripps Clinic
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4415903511