Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity

Abstract 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 h...

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Bibliographic Details
Main Authors: Jasmin J. Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M. E. Männistö, Jayne A. L. Houghton, Susann Empting, Matthew B. Johnson, Thomas W. Laver, Jonathan M. Locke, Benjamin Spurrier, Matthew N. Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange, International Congenital Hyperinsulinism Consortium, Klaus Mohnike, Jean-Baptiste Arnoux, Nick D. L. Owens, Martin Zenker, Christine Bellanné-Chantelot, Sarah E. Flanagan
Format: Article
Language:English
Published: BMC 2025-03-01
Series:Genome Medicine
Subjects:
Congenital hyperinsulinism
Non-coding
Hexokinase 1
Monogenic disease
Variable penetrance
Online Access:https://doi.org/10.1186/s13073-025-01440-w

Internet

https://doi.org/10.1186/s13073-025-01440-w

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