title: Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
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.
authors.affiliation: Department of Medicine, Veterans Affairs Medical Center, University of California San Diego, 3350 La Jolla Village Drive, La Jolla, California 92161, USA.
authors.forename: Frank
authors.initials: F
authors.lastname: Rutsch
authors.forename: Nico
authors.initials: N
authors.lastname: Ruf
authors.forename: Sucheta
authors.initials: S
authors.lastname: Vaingankar
authors.forename: Mohammad R
authors.initials: MR
authors.lastname: Toliat
authors.forename: Anita
authors.initials: A
authors.lastname: Suk
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Höhne
authors.forename: Galen
authors.initials: G
authors.lastname: Schauer
authors.forename: Mandy
authors.initials: M
authors.lastname: Lehmann
authors.forename: Tony
authors.initials: T
authors.lastname: Roscioli
authors.forename: Dirk
authors.initials: D
authors.lastname: Schnabel
authors.forename: Jörg T
authors.initials: JT
authors.lastname: Epplen
authors.forename: Alex
authors.initials: A
authors.lastname: Knisely
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
authors.forename: James
authors.initials: J
authors.lastname: McGill
authors.forename: Marco
authors.initials: M
authors.lastname: Filippone
authors.forename: Alan R
authors.initials: AR
authors.lastname: Sinaiko
authors.forename: Hillary
authors.initials: H
authors.lastname: Vallance
authors.forename: Bernd
authors.initials: B
authors.lastname: Hinrichs
authors.forename: Wendy
authors.initials: W
authors.lastname: Smith
authors.forename: Merry
authors.initials: M
authors.lastname: Ferre
authors.forename: Robert
authors.initials: R
authors.lastname: Terkeltaub
authors.forename: Peter
authors.initials: P
authors.lastname: Nürnberg
mesh_terms: D001158:Arteries / Q000473:pathology*; D002114:Calcinosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010641:Phenotype; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D011755:Pyrophosphatases / Q000235:genetics*
chemical_list: D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases