hrp0089p2-p110 | Diabetes & Insulin P2 | ESPE2018

Neonatal Diabetes Mellitus Caused by a Novel GLIS3 Mutation in Twins

London Shira , Elias-Assad Ghadir , Barhoum Marie Noufi , Felszer Clari , Paniakov Marina , Vainer Scott , Flanagan Sarah , Houghton Jayne , Rakover Yardena Tenenbaum

Background: GLIS3 is a transcription factor involved in the development of pancreatic β-cells, the thyroid, eyes, liver and kidneys. In the pancreas, GLIS3 is expressed at various stages of ductal and endocrine cell development, and is a critical regulator of β-cell development and insulin expression. Mutations in GLIS3 have been recently described as a rare cause of neonatal diabetes and congenital hypothyroidism (CH), reported in only 20 ...