Refinement of the chromosome 5p locus for familial calcium pyrophosphate dihydrate deposition disease. Academic Article uri icon

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.

published proceedings

  • Am J Hum Genet

altmetric score

  • 3

author list (cited authors)

  • Andrew, L. J., Brancolini, V., de la Pena, L. S., Devoto, M., Caeiro, F., Marchegiani, R., ... Williams, C. J.

citation count

  • 50

complete list of authors

  • Andrew, LJ||Brancolini, V||de la Pena, LS||Devoto, M||Caeiro, F||Marchegiani, R||Reginato, A||Gaucher, A||Netter, P||Gillet, P||Loeuille, D||Prockop, DJ||Carr, A||Wordsworth, BF||Lathrop, M||Butcher, S||Considine, E||Everts, K||Nicod, A||Walsh, S||Williams, CJ

publication date

  • January 1999