Atypical Diabetes Mellitus Associated With Kabuki Syndrome: A Model of Epigenetic Disturbance in Insulin Resistance?

Abstract

Abstract Background: Kabuki syndrome (KS) is a genetically heterogeneous disorder characterized by striking facial features similar to make-up of actors in Japanese Kabuki performance together with multi-organ defects. The first identified and most frequently involved gene is KMT2D which encodes a histone H3K4 methyltransferase. Even though KS is a rare syndrome and associated diabetes has been rarely reported, both type 1 DM and type 2 DM had been previously reported. Understanding the function of the genes that lead to KS opens up the possibility of targeted therapies for diabetes. Clinical Case: A 27-year-old male with unconfirmed diagnosis of Fragile X syndr..