Type 3 form of MODY: the clinical and molecular-genetic characteristic. Nine cases of the disease

Abstract

Monogenic forms of diabetes mellitus make up a group of rare pathologies associated with various forms of carbohydrate metabolism disorders. This group includes genetically determined dysfunction of pancreatic Β-cells and/or factors participating in glucose metabolism. Mutations in the HNFIA gene encoding for the nuclear transcription factor are responsible for the development of MODY3, one of the most widespread forms of monogenic diabetes mellitus. We present the description of the cases of MODY3 caused by mutations in the HNFIA gene reported from this country.