| Literature DB >> 9915952 |
L J Andrew1, 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, C J Williams.
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.Entities:
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Year: 1999 PMID： 9915952 PMCID： PMC1377711 DOI： 10.1086/302186
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025