Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease.

Journal article

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.

Authors: Andrew, L; Brancolini, V; de la Pena, L; Devoto, M; Caeiro, F

• Publication status: Published
• Journal: American journal of human genetics
• Volume: 64
• Issue: 1
• Pages: 136-145
• Publication date: 1999-01-01
• DOI: 10.1086/302186
• EISSN: 1537-6605
• ISSN: 0002-9297
• Language: English
• Keywords: Male; Cartilage, Articular; Chromosome Banding; Chondrocalcinosis; Lod Score; Calcium Pyrophosphate; Microsatellite Repeats; Phenotype; Karyotyping; Pedigree; Chromosomes, Human, Pair 8; Female; Humans; Chromosomes, Human, Pair 5