Endocrine Abstracts

Introduction: Maturity-onset diabetes of the young (MODY) 5 is caused by mutations in the TCF2 (HNF1B) gene encoding the transcription factor hepatocyte nuclear factor-1. However, in 60% ofthe patients with a phenotype suggesting MODY5, no pointmutation is detected in TCF2 gene. In some of those patients genomic rearrangements may be responsible for the phenotype.MODY5 or renal and diabetes syndrome (OMIM #137920) encompasses a wide cli...