Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. |
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| Authors: | L J Andrew V Brancolini L S de la Pena M Devoto F Caeiro R Marchegiani A Reginato A Gaucher P Netter P Gillet D Loeuille D J Prockop A Carr B F Wordsworth M Lathrop S Butcher E Considine K Everts A Nicod S Walsh and C J Williams |
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| Institution: | Wellcome Trust Centre for Human Genetics, Headington, Oxford, United Kingdom. |
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| Abstract: | 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. |
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