hrp0084p1-102 | Perinatal | ESPE2015

The Role of HNF1B in Human Pancreas Development and Diabetes

El Khairi Ranna , Hattersley Andrew , Vallier Ludovic

Background: Diabetes mellitus is a heterogeneous disorder with multiple aetiologies. Monogenic diabetes accounts for an estimated 2–5% of cases and is often associated with impaired pancreas development and β-cell dysfunction. Heterozygous mutations in the transcription factor, HNF1B, result in multi-system disease including diabetes due to β-cell dysfunction, hepatic insulin resistance and pancreatic hypoplasia. However, the mechanisms that underlie development...