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Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.

Authors: Levy-Litan, V  Hershkovitz, E  Avizov, L  Leventhal, N  Bercovich, D  Chalifa-Caspi, V  Manor, E  Buriakovsky, S  Hadad, Y  Goding, J  Parvari, R 
Citation: Levy-Litan V, etal., Am J Hum Genet. 2010 Feb 12;86(2):273-8. Epub 2010 Feb 4.
Pubmed: (View Article at PubMed) PMID:20137772
DOI: Full-text: DOI:10.1016/j.ajhg.2010.01.010

Human disorders of phosphate (Pi) handling and hypophosphatemic rickets have been shown to result from mutations in PHEX, FGF23, and DMP1, presenting as X-linked recessive, autosomal-dominant, and autosomal-recessive patterns, respectively. We present the identification of an inactivating mutation in the ecto-nucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene causing autosomal-recessive hypophosphatemic rickets (ARHR) with phosphaturia by positional cloning. ENPP1 generates inorganic pyrophosphate (PPi), an essential physiologic inhibitor of calcification, and previously described inactivating mutations in this gene were shown to cause aberrant ectopic calcification disorders, whereas no aberrant calcifications were present in our patients. Our surprising result suggests a different pathway involved in the generation of ARHR and possible additional functions for ENPP1.


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CRRD Object Information
CRRD ID: 6906931
Created: 2012-10-22
Species: All species
Last Modified: 2012-10-22
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.