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


ABSTRACT: 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.

SUBMITTER: Levy-Litan V 

PROVIDER: S-EPMC2820183 | biostudies-literature | 2010 Feb

REPOSITORIES: biostudies-literature

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

Levy-Litan Varda V   Hershkovitz Eli E   Avizov Luba L   Leventhal Neta N   Bercovich Dani D   Chalifa-Caspi Vered V   Manor Esther E   Buriakovsky Sophia S   Hadad Yair Y   Goding James J   Parvari Ruti R  

American journal of human genetics 20100204 2


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 py  ...[more]

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