What are the genetic changes related to progressive pseudorheumatoid dysplasia ?
PPRD is caused by mutations in the WISP3 gene. The function of the protein produced from this gene is not well understood, although it is thought to play a role in bone growth and cartilage maintenance. The WISP3 protein is made in cells called chondrocytes, which produce and maintain cartilage. This protein is associated with the production of certain proteins that make up cartilage, but its role in their production is unclear. WISP3 may also help control signaling pathways involved in the development of cartilage and bone and may help regulate the breakdown of cartilage components.  WISP3 gene mutations lead to an altered protein that may not function. Loss of WISP3 protein function likely disrupts normal cartilage maintenance and bone growth, leading to the cartilage degeneration and joint problems that occur in PPRD.