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Familial calcium pyrophosphate dihydrate deposition disease (CPPDD) is a disease of articular cartilage that is radiographically characterized by chondrocalcinosis due to the deposition of calcium-containing crystals in affected joints. We have documented the disease in an Argentinean kindred of northern Italian ancestry and in a French kindred from the Alsace region. Both families presented with a common phenotype including early age at onset and deposition of crystals of calcium pyrophosphate dihydrate in a similar pattern of affected joints. Affected family members were karyotypically normal. Linkage to the short arm of chromosome 5 was observed, consistent with a previous report of linkage of the CPPDD phenotype in a large British kindred to the 5p15 region. However, recombinants in the Argentinean kindred have enabled us to designate a region<1 cM in length between the markers D5S416 and D5S2114 as the CPPDD locus.

Type

Journal article

Journal

Am J Hum Genet

Publication Date

01/1999

Volume

64

Pages

136 - 145

Keywords

Calcium Pyrophosphate, Cartilage, Articular, Chondrocalcinosis, Chromosome Banding, Chromosomes, Human, Pair 5, Chromosomes, Human, Pair 8, Female, Humans, Karyotyping, Lod Score, Male, Microsatellite Repeats, Pedigree, Phenotype