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

Item Type:Article
Title:Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
Creators Name:Rutsch, F. and Ruf, N. and Vaingankar, S. and Toliat, M.R. and Suk, A. and Hoehne, W. and Schauer, G. and Lehmann, M. and Roscioli, T. and Schnabel, D. and Epplen, J.T. and Knisely, A. and Superti-Furga, A. and McGill, J. and Filippone, M. and Sinaiko, A.R. and Vallance, H. and Hinrichs, B. and Smith, W. and Ferre, M. and Terkeltaub, R. and Nuernberg, P.
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 I (ENPP1). This cell surface enzyme generates inorganic pyrophosphate (PPi), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification.
Keywords:Arteries, Calcinosis, DNA Mutational Analysis, Mutation, Phenotype, Phosphoric Diester Hydrolases, Pyrophosphatases
Source:Nature Genetics
Publisher:Nature Publishing Group
Page Range:379-381
Date:1 January 2003
PubMed:View item in PubMed

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