Article
The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Human mutation - 1 Dec 2022
Szeri Flora, Miko Agnes, Navasiolava Nastassia, Kaposi Ambrus, Verschuere Shana, Molnar Beatrix, Li Qiaoli, Terry Sharon F, Boraldi Federica, Uitto Jouni, van de Wetering Koen, Martin Ludovic, Quaglino Daniela, Vanakker Olivier M, Tory Kalman, Aranyi Tamas
Abstract excerpt
ABCC6 promotes ATP efflux from hepatocytes to bloodstream. ATP is metabolized to pyrophosphate, an inhibitor of ectopic calcification. Pathogenic variants of ABCC6 cause pseudoxanthoma elasticum, a highly variable recessive ectopic calcification disorder. Incomplete penetrance may initiate disease heterogeneity, hence symptoms may not, or differently manifest in carriers. Here, we investigated whether incomplete...
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