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Article

ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.

Human mutation - 1 Dec 2022

Mercurio Stephanie A, Chunn Lauren M, Khursigara Gus, Nester Catherine, Wray Kathleen, Botschen Ulrike, Kiel Mark J, Rutsch Frank, Ferreira Carlos R

Abstract excerpt

Loss-of-function variants in the ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (ENPP1) cause ENPP1 Deficiency, a rare disorder characterized by pathological calcification, neointimal proliferation, and impaired bone mineralization. The consequence of ENPP1 Deficiency is a broad range of age dependent symptoms and morbidities including cardiovascular complications and 50% mortality in infants,...

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PMID: 36150100
DOI: 10.1002/humu.24477

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