Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification.
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.
Rutsch
Frank
F
Department of Medicine, Veterans Affairs Medical Center, University of California San Diego, 3350 La Jolla Village Drive, La Jolla, California 92161, USA.
Ruf
Nico
N
Vaingankar
Sucheta
S
Toliat
Mohammad R
MR
Suk
Anita
A
Höhne
Wolfgang
W
Schauer
Galen
G
Lehmann
Mandy
M
Roscioli
Tony
T
Schnabel
Dirk
D
Epplen
Jörg T
JT
Knisely
Alex
A
Superti-Furga
Andrea
A
McGill
James
J
Filippone
Marco
M
Sinaiko
Alan R
AR
Vallance
Hillary
H
Hinrichs
Bernd
B
Smith
Wendy
W
Ferre
Merry
M
Terkeltaub
Robert
R
Nürnberg
Peter
P
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*
D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases