title: Familial calcium pyrophosphate dihydrate deposition disease and the ANKH gene.
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.
authors.affiliation: Department of Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA. Charlene.Williams@mail.tju.edu
authors.forename: Charlene J
authors.initials: CJ
authors.lastname: Williams
mesh_terms: D000818:Animals; D002114:Calcinosis / Q000235:genetics / Q000503:physiopathology; D002131:Calcium Pyrophosphate / Q000378:metabolism*; D002805:Chondrocalcinosis / Q000235:genetics* / Q000503:physiopathology; D002895:Chromosomes, Human, Pair 5; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008822:Mice, Transgenic; D009154:Mutation; D010375:Pedigree; D028061:Phosphate Transport Proteins; D051381:Rats; D018570:Risk Assessment
chemical_list: C498770:ANKH protein, human; C498769:Ankh protein, mouse; D008565:Membrane Proteins; D028061:Phosphate Transport Proteins; C410982:ank protein, mouse; D002131:Calcium Pyrophosphate