Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
Sumaya IslamMehmet TekmanSarah E. FlanaganLisa Guay-WoodfordKhalid HussainSian EllardRobert KletaDetlef BockenhauerHoria StanescuDaniela IancuPublished in: Molecular genetics & genomic medicine (2021)
The shared unique haplotype among seemingly unrelated patients is consistent with a founder effect in Europeans.