PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia

X-linked hypophosphatemia (XLH) is a dominant disorder of phosphate (Pi) ho meostasis characterized by growth retardation, rachitic and osteomalacic bo ne disease, hypophosphatemia, and renal defects in Pi reabsorption and vita min D metabolism. The gene responsible for XLH was identified by positional cloning and designated PHEX (formerly PEX) to depict a Phosphate regulatin g gene with homology to Endopeptidases on the X chromosome. To date, 131 mu tations in the PHEX gene have been reported. We undertook to centralize inf ormation on mutations in the PHEX gene by establishing a database search to ol, PHEXdb (http://data.mch.mcgill.ca/phexdb). This site is dedicated to th e collection and distribution of information on PHEX mutations, and is acce ssible to the scientific community. PHEXdb provides a submission form to al low the addition of newly identified mutations in the PHEX gene. Users can search the database by mutation, phenotype, and authors who have published or submitted mutations. The PHEXdb home page includes links to information pages, which refer to recent publications on PHEX, XLH, and murine Hyp and Gy homologues, and to other web pages relevant to XLH. This resource will f acilitate the identification of PHEX structure-function relationships and p henotype-genotype correlations. Hum Mutat 16:1-6, 2000, (C) 2000 Wiley-Liss .