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Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.
Am J Hum Genet. 2010 Feb 12; 86(2):267-72.AJ

Abstract

The analysis of rare genetic disorders affecting phosphate homeostasis led to the identification of several proteins that are essential for the renal regulation of phosphate homeostasis; for example, fibroblast growth factor 23 (FGF23), which inhibits renal phosphate reabsorption and 1,25-dihydroxyvitamin D synthesis. Here, we report presumable loss-of-function mutations in the ENPP1 gene (ectonucleotide pyrophosphatase/phosphodiesterase) in members of four families affected with hypophosphatemic rickets. We provide evidence for the conclusion that ENPP1 is the fourth gene-in addition to PHEX, FGF23, and DMP1-that, if mutated, causes hypophosphatemic rickets resulting from elevated FGF23 levels. Surprisingly, ENPP1 loss-of-function mutations have previously been described in generalized arterial calcification of infancy, suggesting an as yet elusive mechanism that balances arterial calcification with bone mineralization.

Authors+Show Affiliations

Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20137773

Citation

Lorenz-Depiereux, Bettina, et al. "Loss-of-function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-recessive Hypophosphatemic Rickets." American Journal of Human Genetics, vol. 86, no. 2, 2010, pp. 267-72.
Lorenz-Depiereux B, Schnabel D, Tiosano D, et al. Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet. 2010;86(2):267-72.
Lorenz-Depiereux, B., Schnabel, D., Tiosano, D., Häusler, G., & Strom, T. M. (2010). Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. American Journal of Human Genetics, 86(2), 267-72. https://doi.org/10.1016/j.ajhg.2010.01.006
Lorenz-Depiereux B, et al. Loss-of-function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-recessive Hypophosphatemic Rickets. Am J Hum Genet. 2010 Feb 12;86(2):267-72. PubMed PMID: 20137773.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. AU - Lorenz-Depiereux,Bettina, AU - Schnabel,Dirk, AU - Tiosano,Dov, AU - Häusler,Gabriele, AU - Strom,Tim M, Y1 - 2010/02/04/ PY - 2009/10/23/received PY - 2010/01/04/revised PY - 2010/01/08/accepted PY - 2010/2/9/entrez PY - 2010/2/9/pubmed PY - 2010/3/20/medline SP - 267 EP - 72 JF - American journal of human genetics JO - Am J Hum Genet VL - 86 IS - 2 N2 - The analysis of rare genetic disorders affecting phosphate homeostasis led to the identification of several proteins that are essential for the renal regulation of phosphate homeostasis; for example, fibroblast growth factor 23 (FGF23), which inhibits renal phosphate reabsorption and 1,25-dihydroxyvitamin D synthesis. Here, we report presumable loss-of-function mutations in the ENPP1 gene (ectonucleotide pyrophosphatase/phosphodiesterase) in members of four families affected with hypophosphatemic rickets. We provide evidence for the conclusion that ENPP1 is the fourth gene-in addition to PHEX, FGF23, and DMP1-that, if mutated, causes hypophosphatemic rickets resulting from elevated FGF23 levels. Surprisingly, ENPP1 loss-of-function mutations have previously been described in generalized arterial calcification of infancy, suggesting an as yet elusive mechanism that balances arterial calcification with bone mineralization. SN - 1537-6605 UR - https://www.unboundmedicine.com/medline/citation/20137773/Loss_of_function_ENPP1_mutations_cause_both_generalized_arterial_calcification_of_infancy_and_autosomal_recessive_hypophosphatemic_rickets_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(10)00007-8 DB - PRIME DP - Unbound Medicine ER -