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

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

doi:10.1038/ng1221

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

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 FerreRobert Terkeltaub, Peter Nürnberg

Pediatrics - Nephrology

Research output: Contribution to journal › Article › peer-review

493 Scopus citations

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

Original language	English (US)
Pages (from-to)	379-381
Number of pages	3
Journal	Nature Genetics
Volume	34
Issue number	4
DOIs	https://doi.org/10.1038/ng1221
State	Published - Aug 1 2003

Bibliographical note

Funding Information:
We thank H. Ritter for microsatellite analyses; I. Bäβmann for technical assistance in cell culturing and mRNA preparation; and D. Morris, N. Makhseed and E. Harps for providing material from affected individuals. This work was supported in part by grants from the Deutsche Forschungsgemeinschaft (F.R., P.N.), the German Federal Department of Education and Research (P.N.), the US National Institutes of Health and Veterans Affairs Research Service (R.T.) and the US Arthritis National Research Foundation (S.V.).

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Rutsch, F., Ruf, N., Vaingankar, S., Toliat, M. R., Suk, A., Höhne, W., Schauer, G., Lehmann, M., Roscioli, T., Schnabel, D., Epplen, J. T., Knisely, A., Superti-Furga, A., McGill, J., Filippone, M., Sinaiko, A. R., Vallance, H., Hinrichs, B., Smith, W., ... Nürnberg, P. (2003). Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nature Genetics, 34(4), 379-381. https://doi.org/10.1038/ng1221

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 2003, 'Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification', Nature Genetics, vol. 34, no. 4, pp. 379-381. https://doi.org/10.1038/ng1221

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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.",

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

Abstract

Bibliographical note

UN SDGs

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