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A 94-bp Deletion in the Promoter of the Beta-Cell Disallowed gene SLC16A1 causing Adult-onset Hyperinsulinism

2025-12-18 genetic and genomic medicine Title + abstract only
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Non-coding variants in the promoter region of SLC16A1, a beta-cell-disallowed gene encoding Monocarboxylate Transporter 1 (MCT1), cause exercise-induced hyperinsulinism (EIHI). These variants are thought to cause aberrant expression of MCT1 in pancreatic beta-cells, enabling pyruvate uptake during exercise which triggers inappropriate insulin secretion. We identified a 94-bp deletion in the SLC16A1 promoter in 37 individuals from 11 families with childhood- or adult-onset hyperinsulinemic hypogl...

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