A case of maturity-onset diabetes of the young with a pathogenic HNF1A variant and a coexisting NEUROD1 variant.
Tomofumi Takayoshi, Yushi Hirota, Kenji Sugawara et al.
✦ AI-curated · Sources linked
Case in brief
A 21-year-old woman presented with early-onset diabetes and was diagnosed with maturity-onset diabetes of the young (MODY) due to a pathogenic HNF1A variant. Genetic testing revealed a coexisting NEUROD1 variant of uncertain significance, which was also found in her mother and sister, both exhibiting impaired glucose tolerance. Structural analyses indicated potential impacts on protein stability from the variants.
What made this case unusual
This case is notable for the coexistence of a pathogenic HNF1A variant with a NEUROD1 variant of uncertain significance, highlighting the complexity of genetic factors in MODY.
Diagnostic / clinical pearl
Clinicians should consider genetic testing for MODY in young, lean patients with diabetes, especially when islet autoantibodies are absent.
Why it matters
Understanding the implications of multiple gene variants in MODY can enhance diagnostic accuracy and inform management strategies for affected families.