Clinical correlations of osteoarthritis associated with single base mutations in the type II procollagen gene.

Abstract excerpt

There are increasing numbers of mutations described in the gene for type II collagen (COL2A1). Recently, COL2A1 mutations were shown to be associated with milder forms of chondrodysplasia, which may present with precocious generalized osteoarthritis (OA). The arginine519-cysteine and the arginine75-cysteine mutations are 2 such sites on COL2A1 where multiple unrelated families have been reported presenting with...

Topics

• Amino Acid Sequence
• Collagen
• Humans
• Mutation
• Osteoarthritis
• Osteochondrodysplasias
• Procollagen