A novel disease mechanism leading to the expression of a disallowed gene in the pancreatic beta-cell identified by non-coding, regulatory mutations controlling HK1
Matthew Neil Wakeling, Nick D. L. Owens, Jessica R. Hopkinson, Matthew B. Johnson, Jayne Houghton, Antonia Dastamani, Christine S. Flaxman, Rebecca C. Wyatt, Thomas I. Hewat, Jasmin J. Hopkins, Thomas William Laver, Rachel van Heugten, Michael N. Weedon, Elisa De Franco, Kashyap Amratlal Patel, , Sarah Elizabeth Flanagan
The paper identifies non-coding mutations in a regulatory element of HK1 that lead to inappropriate expression in pancreatic beta-cells and cause congenital hyperinsulinism.
Nature Genetics · Nov 1, 2022Peer-reviewedGenetic & Genomic Medicine