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Open Access Green as soon as Postprint is submitted to ZB.
Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.
Am. J. Hum. Genet. 86, 267-272 (2010)
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.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
FGF23; DMP1
ISSN (print) / ISBN
0002-9297
e-ISSN
1537-6605
Quellenangaben
Volume: 86,
Issue: 2,
Pages: 267-272
Publisher
Elsevier
Publishing Place
New York, NY
Reviewing status
Peer reviewed
Institute(s)
Institute of Human Genetics (IHG)