Atypical diabetes mellitus associated with Kabuki syndrome.

**New Projects On Offer for 2025** Kabuki syndrome (KS) is a genetically heterogenous disorder characterised by striking facial features and multi-organ defects. Children with KS may have a number of features in common, including distinctive facial features, skeletal (bone) abnormalities, neurological abnormalities and other health complications. The first identified and most frequently involved gene is KMT2D which encodes a histone H3K4 methyltransferase. While KS associated diabetes are rarely reported, both type 1 DM and type 2 DM have been previously described. Understanding the function of the KMT2D gene in KS could lead to targeted therapeutic approaches. This project will examine clinical recognizable phenotypes in patients with diabetes. Applied translational studies examining H3K4 modification by KMT2D will define regulatory signatures associated with insulin signaling pathways and define the pathogenesis of epigenetic changes in Kabuki syndrome.