Genetics of chondrocalcinosis

Raihana Zaka, Charlene J. Williams

    Research output: Contribution to journalReview articlepeer-review

    19 Scopus citations


    Rapid developments in genetic analysis have enabled the dissection of a variety of arthropathies that are inherited in a Mendelian manner. These disorders include calcium crystal arthropathies such as calcium pyrophosphate dihydrate deposition (CPPD) disease and hydroxyapatite deposition disease. In CPPD disease, mutations in a recently discovered gene, ANKH, have been demonstrated in five affected families and may also be associated with the idiopathic deposition of calcium pyrophosphate dihydrate crystals. The product of ANKH appears to be involved in cellular transport of inorganic pyrophosphate (PPi) and mutations in ANKH have been shown to have a significant impact on the regulation of intra- and extracellular levels of PPi. In families with hydroxyapatite deposition disease, no gene locus has yet been linked to the disorder.

    Original languageEnglish (US)
    Pages (from-to)745-750
    Number of pages6
    JournalOsteoarthritis and Cartilage
    Issue number9
    StatePublished - Sep 2005

    All Science Journal Classification (ASJC) codes

    • Rheumatology
    • Biomedical Engineering
    • Orthopedics and Sports Medicine


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