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

被引：454

作者：

Rutsch, F

Ruf, N

Vaingankar, S

Toliat, MR

Suk, A

Höhne, W

Schauer, G

Lehmann, M

Roscioli, T

Schnabel, D

Epplen, JT

Knisely, A

Superti-Furga, A

McGill, J

Filippone, M

Sinaiko, AR

Vallance, H

Hinrichs, B

Smith, W

Ferre, M

Terkeltaub, R

Nürnberg, P

机构：

[1] Univ Calif San Diego, Vet Affairs Med Ctr, Dept Med, La Jolla, CA 92161 USA

[2] Humboldt Univ, Charite Univ Hosp, Inst Med Genet, Berlin, Germany

[3] Max Delbruck Ctr Mol Med, Berlin, Germany

[4] Humboldt Univ, Charite Univ Hosp, Inst Biochem, Berlin, Germany

[5] Childrens Hosp & Clin, Dept Pathol, Minneapolis, MN USA

[6] Royal Prince Alfred Hosp, Dept Clin & Mol Genet, Sydney, NSW, Australia

[7] Humboldt Univ, Charite Univ Hosp, Dept Pediat, Berlin, Germany

[8] Ruhr Univ Bochum, Dept Human Genet, D-4630 Bochum, Germany

[9] Kings Coll Hosp London, Inst Liver Studies, London SE5 8RX, England

[10] Univ Childrens Hosp, Div Metab & Mol Dis, Zurich, Switzerland

[11] Royal Childrens Hosp, Dept Metab Med, Brisbane, Qld, Australia

[12] Univ Padua, Sch Med, Dept Pediat, Padua, Italy

[13] Univ Minnesota, Sch Med, Dept Pediat, Minneapolis, MN 55455 USA

[14] Childrens & Womens Hlth Ctr British Columbia, Dept Pathol & Lab Med, Biochem Dis Lab, Vancouver, BC, Canada

[15] Eppendorf Univ Hosp, Dept Neonatol, Hamburg, Germany

[16] Barbara Bush Childrens Hosp, Maine Med Ctr, Div Genet, Portland, OR USA

[17] Prenatal Diagnost Ctr, Roanoke, VA USA

来源：

NATURE GENETICS | 2003年 / 34卷 / 04期

基金：

新加坡国家研究基金会; 美国国家卫生研究院;

关键词：

D O I：

10.1038/ng1221

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 (PPi), a solute that regulates cell differentiation and serves as an essential physiologic inhibitor of calcification.

引用

页码：379 / 381

页数：3

共 15 条

[1] Nucleotide pyrophosphatases/phosphodiesterases on the move [J].