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hrp0082p1-d1-183 | Perinatal and Neonatal Endocrinology | ESPE2014

Molecular Genetic Analysis of Czech Patients with Congenital Hyperinsulinism: Surprisingly High Incidence of HNF1A Mutations

Rozenkova Klara , Dusatkova Lenka , Dusatkova Petra , Kytnarova Jitka , Obermannova Barbora , Rypackova Blanka , Sumnik Zdenek , Lebl Jan , Cinek Ondrej , Pruhova Stepanka

Background: Congenital hyperinsulinism of infancy represents a group of heterogeneous disorders characterized by over-secretion of insulin from pancreatic β cells causing severe hypoglycemia. Genetically, congenital hyperinsulinism is caused by defects in key genes regulating insulin secretion (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, and non-constantly HNF1A). The aim of our pr...

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Molecular Genetic Analysis of Czech Patients with Congenital Hyperinsulinism: Surprisingly High Incidence of HNF1A Mutations

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