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Related Experiment Videos

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

Y Sabbagh1, A O Jones, H S Tenenhouse

  • 1Department of Biology, McGill University, Montréal, Québec, Canada.

Human Mutation
|June 30, 2000
PubMed
Summary
This summary is machine-generated.

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X-linked hypophosphatemia (XLH) is a genetic disorder affecting phosphate balance. PHEXdb centralizes PHEX gene mutation data, aiding research into XLH structure-function and genotype-phenotype correlations.

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • X-linked hypophosphatemia (XLH) is a dominant disorder impacting phosphate homeostasis.
  • Key features include growth retardation, bone disease, hypophosphatemia, and renal Pi and vitamin D metabolism defects.
  • The PHEX gene, located on the X chromosome, is responsible for XLH.

Purpose of the Study:

  • To centralize information on PHEX gene mutations.
  • To establish a searchable database (PHEXdb) for the scientific community.
  • To facilitate the identification of PHEX structure-function relationships and genotype-phenotype correlations in XLH.

Main Methods:

  • Positional cloning identified the PHEX gene.
  • Development of PHEXdb, a web-based database (http://data.mch.mcgill.ca/phexdb).

Related Experiment Videos

  • PHEXdb includes mutation submission forms and search functionalities by mutation, phenotype, and authors.

    • Main Results:

    • 131 mutations in the PHEX gene have been reported to date.
    • PHEXdb provides a centralized repository for PHEX mutation data.
    • The database offers links to relevant publications and external resources.

    Conclusions:

    • PHEXdb serves as a valuable resource for researchers studying XLH.
    • Centralized mutation data will advance understanding of PHEX gene function.
    • Facilitates genotype-phenotype correlation studies in X-linked hypophosphatemia.