Article
Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.
Pediatric nephrology (Berlin, Germany) - 1 Aug 2021
Dorval Guillaume, Jeanpierre Cécile, Morinière Vincent, Tournant Carole, Bessières Bettina, Attié-Bittach Tania, Amiel Jeanne, Spaggari Emmanuel, Ville Yves, Merieau Elodie, Gubler Marie-Claire, Saunier Sophie, Heidet Laurence
Abstract excerpt
BACKGROUND: Co-occurrence of polycystic kidney disease and hyperinsulinemic hypoglycemia has been reported in children in a few families associated with a variant in the promotor of the PMM2 gene, at position -167 upstream of the coding sequence. PMM2 encodes phosphomannomutase 2, a key enzyme in N-glycosylation. While biallelic coding PMM2 mutations are involved in congenital disorder of glycosylation CDG1A,...
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