Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene

Charlene J. Williams

    Research output: Contribution to journalReview articlepeer-review

    19 Scopus citations

    Abstract

    The crystal deposition arthropathies comprise a host of disorders that may occur idiopathically or as secondary manifestations of associated diseases. Rarely, crystal deposition presents as a familial disorder. Most affected family members display radiographically detectable crystals of calcium pyrophosphate dihydrate in their joint spaces. In genetic studies of familial calcium pyrophosphate dihydrate deposition disease, a region on the short arm of chromosome 5 was found to be genetically linked to the phenotype displayed by several of these families. Among the positional candidates at this locus was ANKH, the human homolog of a gene that is responsible for the phenotype of progressive ankylosis (ank) in the mouse. ANKH codes for a transmembrane protein that appears to regulate the transport of inorganic pyrophosphate. It was analyzed as a potential positional candidate gene for calcium pyrophosphate dihydrate deposition disease, and in several unrelated families, sequence variants were identified that segregated with the calcium pyrophosphate dihydrate deposition disease phenotype among affected members. A discussion of ANKH as the familial calcium pyrophosphate dihydrate deposition disease gene is presented.

    Original languageEnglish (US)
    Pages (from-to)326-331
    Number of pages6
    JournalCurrent Opinion in Rheumatology
    Volume15
    Issue number3
    DOIs
    StatePublished - May 2003

    All Science Journal Classification (ASJC) codes

    • Rheumatology

    Fingerprint

    Dive into the research topics of 'Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene'. Together they form a unique fingerprint.

    Cite this