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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.

Original publication

DOI

10.1086/302186

Type

Journal article

Journal

American Journal of Human Genetics

Publication Date

01/1999

Volume

64

Pages

136 - 145

Addresses

Wellcome Trust Centre for Human Genetics, Headington, Oxford, United Kingdom.

Keywords

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