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

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

Frank Rutsch  1 , Nico Ruf, Sucheta Vaingankar, Mohammad R Toliat, Anita Suk, Wolfgang Höhne, Galen Schauer, Mandy Lehmann, Tony Roscioli, Dirk Schnabel, Jörg T Epplen, Alex Knisely, Andrea Superti-Furga, James McGill, Marco Filippone, Alan R Sinaiko, Hillary Vallance, Bernd Hinrichs, Wendy Smith, Merry Ferre, Robert Terkeltaub, Peter Nürnberg
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Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification

Frank Rutsch et al. Nat Genet. 2003 Aug.

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.

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