Endocrine Abstracts

Introduction: Maturity onset diabetes mellitus of the young (MODY) is a form of monogenic diabetes characterized by pancreatic B-cell dysfunction. The most common subtypes are caused by mutations in the genes encoding glucokinase (GCK) and hepatocyte nuclear factor (HNF1a, HNF4a), although unidentified genes are also involved. Regulatory factor X6 (RFX6) is a transcription factor gene which has an important biological role in B-cell formation and function. Biallelic mutations ...