hrp0084p1-36 | Diabetes | ESPE2015

Somatic Paternal UPD on Chromosome 11p15 in Focal Form of Congenital Hyperinsulinism (CHI) Causes Monoallelic Expression of Mutant ABCC8 and KCNJ11

Dallmann Ina , Vogelgesang Silke , Barthlen Winfried , Varol Emine , Mohnike Wolfgang , Empting Susann , Mohnike Klaus , Zenker Martin , Wieland Ilse

Background: Congenital hyperinsulinism (CHI) is a disorder characterised by dysregulation of insulin secretion that leads to severe hypoglycaemia in neonates and infants. The focal form of CHI is caused by an autosomal recessive mutation in the genes ABCC8 or KCNJ11 inherited from the father and a second somatic event in the affected islet of Langerhans.Objective: We report molecular genetic examination of focal pancreatic lesions of patients receiving t...