Clinical heterogeneity of abnormal glucose homeostasis associated with the HNF4A R311H mutation

Correspondence Dear Sir, Maturity Onset Diabetes of the Young (MODY; MIM# 606391) represents a genetically and clinically heterogeneous form of diabetes mellitus (DM) [1-3], characterized by hyperglycaemia or overt diabetes, in at least two or three consecutive generations, onset <25 years of age, absence of anti ß-cells antibodies. Loss-of-function HNF4A mutations cause a progressive loss of ß-cell function [4] and, eventually, frank hyperglycaemia denominated as MODY1. HNF4A mutations have been associated with MODY1, type 2 diabetes and gestational diabetes (GDM) [5].