Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Nat Genet. 2003 Aug;34(4):379-81. doi: 10.1038/ng1221.

Abstract

Idiopathic infantile arterial calcification (IIAC; OMIM 208000) is characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. We analyzed affected individuals from 11 unrelated kindreds and found that IIAC was associated with mutations that inactivated ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). This cell surface enzyme generates inorganic pyrophosphate (PP(i)), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Arteries / pathology*
  • Calcinosis / enzymology
  • Calcinosis / genetics*
  • Calcinosis / pathology
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Male
  • Mutation*
  • Phenotype
  • Phosphoric Diester Hydrolases / genetics*
  • Pyrophosphatases / genetics*

Substances

  • Phosphoric Diester Hydrolases
  • ectonucleotide pyrophosphatase phosphodiesterase 1
  • Pyrophosphatases

Associated data

  • OMIM/208000