A 94-bp Deletion in the Promoter of the Beta-Cell Disallowed gene SLC16A1 causing Adult-onset Hyperinsulinism
Jasmin J. Bennett, Hazem Ibrahim, Jonna M. E. Männistö, Martina Timonen, Jessica R. Hopkinson, Jonna Saarimäki‐Vire, Michaelis Vasiliadis, M. Muhamad, Cécile Saint‐Martin, Jean‐Baptiste Arnoux, Orla M. Neylon, Julie Okiro, Jayne Houghton, Matthew Neil Wakeling, Thomas William Laver, , Sarah Elizabeth Flanagan
This study identifies a 94-bp deletion in the SLC16A1 promoter causing hyperinsulinism by increasing MCT1 expression and triggering inappropriate insulin secretion during physical activity.
medRxiv · Dec 18, 2025 · PreprintGenetic & Genomic Medicine