Article
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity.
Genome medicine - 3 Mar 2025
Bennett Jasmin J, Saint-Martin Cécile, Neumann Bianca, Männistö Jonna M E, Houghton Jayne A L, Empting Susann, Johnson Matthew B, Laver Thomas W, Locke Jonathan M, Spurrier Benjamin, Wakeling Matthew N, Banerjee Indraneel, Dastamani Antonia, Demirbilek Hüseyin, Mitchell John, Stange Markus, Mohnike Klaus, Arnoux Jean-Baptiste, Owens Nick D L, Zenker Martin, Bellanné-Chantelot Christine, Flanagan Sarah E
Abstract excerpt
BACKGROUND: We recently reported non-coding variants in a cis-regulatory element of the beta-cell disallowed gene hexokinase 1 (HK1) as a novel cause of congenital hyperinsulinism. These variants lead to a loss of repression of HK1 in pancreatic beta-cells, causing insulin secretion during hypoglycaemia. In this study, we aimed to determine the prevalence, genetics, and phenotype of HK1-hyperinsulinism by...
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