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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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hrp0084p2-491 | Hypo | ESPE2015

Functional Analysis of Novel ABCC8 Mutations Found in Czech Patients with Congenital Hyperinsulinism

Rozenkova Klara , Dusatkova Petra , Dusatkova Lenka , Nessa Azizun , Obermannova Barbora , Kytnarova Jitka , Sumnik Zdenek , Lebl Jan , Hussain Khalid , Pruhova Stepanka

Background: Congenital Hyperinsulinism (CHI) is a heterogeneous genetically determined condition that is characterised by unregulated secretion of insulin from pancreatic β-cells. The most common and severe cases are caused by mutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel subunit. To assess the pathogenic effect of novel ABCC8 mutations we performed in-vitro functional studies.Objective and hy...

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ESPE Abstracts

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

Functional Analysis of Novel ABCC8 Mutations Found in Czech Patients with Congenital Hyperinsulinism

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