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

被引：0

作者：

Frank Rutsch

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

机构：

[1] Veterans Affairs Medical Center,Department of Medicine

[2] University of California San Diego,Department of Pathology

[3] Institute of Medical Genetics,Department of Clinical and Molecular Genetics

[4] Charité University Hospital,Department of Pediatrics

[5] Humboldt University,Department of Human Genetics

[6] Gene Mapping Center,Division of Metabolic and Molecular Diseases

[7] Max Delbrück Center for Molecular Medicine,Department of Metabolic Medicine

[8] Institute of Biochemistry,Department of Pediatrics

[9] Charité University Hospital,Department of Pediatrics

[10] Humboldt University,Department of Pathology and Laboratory Medicine

[11] Children's Hospital and Clinics,Department of Neonatology

[12] Royal Prince Alfred Hospital,Division of Genetics

[13] Charité University Hospital,undefined

[14] Humboldt University,undefined

[15] Ruhr-University,undefined

[16] Institute of Liver Studies,undefined

[17] King's College Hospital,undefined

[18] University Children's Hospital,undefined

[19] Royal Children's Hospital,undefined

[20] University of Padova Medical School,undefined

[21] University of Minnesota Medical School,undefined

[22] Biochemical Diseases Laboratory,undefined

[23] Children's and Women's Health Centre of British Columbia,undefined

[24] Eppendorf University Hospital,undefined

[25] Barbara Bush Children's Hospital,undefined

[26] Maine Medical Center,undefined

[27] Prenatal Diagnostic Center,undefined

来源：

Nature Genetics | 2003年 / 34卷

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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：2

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