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Maturity-onset diabetes of the young (MODY) is both a genetically and clinically heterozygous type of diabetes mellitus characterized by early onset (often before 25 yr of age) and absence of pancreatic β-cell autoimmunity markers (1). To date, mutations in several distinct genes have been implicated in MODY (1, 2). Among the different types of MODY, MODY5 is caused by mutations in the gene encoding the transcription factor hepatocyte nuclear factor (HNF) 1β. It is known that several abnormalities in kidney, pancreas, and genital tract formation are found in MODY5 patients (1,2,3,4).  Here we report clinical characteristics and a novel mutation in HNF1B in a Japanese patient with MODY5.

A Case of Novel Mutation of <i>HNF1B</i> in Maturity-onset Diabetes of the Young Type 5 (MODY5)