Analysis of Mutation Site Structure Prediction and Family Characteristics of Maturity-Onset Diabetes of the Young (MODY) with Ketosis: Caused by HNF4α Gene Mutation.

The G310A variant likely disrupts homodimer stability, impairing islet function, similar to neighboring pathogenic mutations. On the other hand, the P444L variant is considered likely pathogenic, with its variable expressivity within the family being characteristic of MODY. This study demonstrates that some HNF4α-MODY patients may present with DKA or DK, highlighting the condition's clinical heterogeneity.