Abstract
Mutations in the WISP3gene cause PPD
Highlights
Progressive pseudorheumatoid dysplasia (PPD;MIM208230b) is an autosomal-recessive disorder that is clinically characterised by spondyloepiphyseal dysplasia and progressive arthropathy and has clinical similarities to rheumatoid arthritis
Genetic linkage analysis located the position of a candidate gene for PPD to chromosome 6q in a 3-cM interval between D6S1594 and D6S432 microsatellite markers
Nine different WISP3 functional mutations were identified in patients but not in any of 100 control alleles
Summary
Progressive pseudorheumatoid dysplasia (PPD;MIM208230b) is an autosomal-recessive disorder that is clinically characterised by spondyloepiphyseal dysplasia and progressive arthropathy and has clinical similarities to rheumatoid arthritis. PPD is characterised by normal sedimentation rate, negative rheumatoid factor and normal histological synovial tissues. Genetic linkage analysis located the position of a candidate gene for PPD to chromosome 6q in a 3-cM interval between D6S1594 and D6S432 microsatellite markers. To identify and characterise the gene(s) for PPD in the area of linkage on chromosome 6q22, and to investigate the candidate gene for mutations in patients from different ethnic backgrounds
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