Article
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD).
Molecular genetics & genomic medicine - 1 Dec 2021
Islam Sumaya, Tekman Mehmet, Flanagan Sarah E, Guay-Woodford Lisa, Hussain Khalid, Ellard Sian, Kleta Robert, Bockenhauer Detlef, Stanescu Horia, Iancu Daniela
Abstract excerpt
BACKGROUND: Polycystic kidney disease with hyperinsulinaemic hypoglycaemia (HIPKD) is a recently described disease caused by a single nucleotide variant, c.-167G>T, in the promoter region of PMM2 (encoding phosphomannomutase 2), either in homozygosity or compound heterozygosity with a pathogenic coding variant in trans. All patients identified so far are of European descent, suggesting a possible founder effect....
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