The results suggest that mutated Wisp3 protein aggregated abnormally in cytoplasm, and mutated Wisp3 failed to inhibit cell proliferation and modulate the expression of type II collagen in chondrocytes, which may be an important molecule mechanism involved in the pathogenesis of SEDT-PA/PPD. Here, CCN6 is linked to spondyloepiphyseal dysplasia tarda, X-linked.