Genome sequencing and analysis of public epigenomic data enabled the identification of disease-causing variants in a non-coding regulatory region of hexokinase 1 (HK1) in individuals with congenital hyperinsulinism. These variants caused inappropriate HK1 expression within pancreatic β-cells, which led to increased insulin secretion and hypoglycemia.
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References
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This is a summary of: Flanagan, S. E. et al. Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism. Nat. Genet. https://doi.org/10.1038/s41588-022-01204-x (2022).
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Disrupted β-cell-specific gene silencing causes congenital hyperinsulinism. Nat Genet 54, 1597–1598 (2022). https://doi.org/10.1038/s41588-022-01206-9
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DOI: https://doi.org/10.1038/s41588-022-01206-9
