Correlation between CCN6 gene and Progressive pseudorheumatoid dysplasia

Objective To report a case of progressive pseudorheumatoid dysplasia (PPRD) with two kinds of WNT1-inducible signaling pathway3(WISP3) gene mutation.A case of PPRD was reported.Its clinical profile and the process of diagnosis were analyzed, and the related literature were reviewed. A 15-years old boy, who developed progressive ankle and hip joint pain and enlargement with spine involvement, was diagnosed as PPRD.The erythrocyte sedimentation rate and C-reactive protein(CRP) were m normal range, theumatoid factor and Anti-cyclic citrullinated peptide antibody(ACPA) were all negative. Human leukocyte antigen-27(HLA-B27) was also negative. Cene study discovered two kinds of mutations in WISP3 gene: c. 802T>C and c.624dup. Radiographic studies revealed spine platyspondyly and shaped beaked, osteoporosis, bilateral symmetric bony enlargements of the interphalangeal joints .Hip shows bilateral acetabulum and femoral head bone marrow edema which revealed hip arthritis. Gene detection, laboratory examination and typical radiographic features are helpful for the diagnosis of PPRD. This is the first report of c. 802T>C and c.624dup mutations in patients with PPRD in our country.