Mutations in ACAN have been linked to monogenic human skeletal disorders such as osteochondritis dissectans (OMIM 165800)16 and spondyloepiphyseal dysplasia (OMIM 612813), and VNTR polymorphisms with premature degenerative lumbar disk degeneration17,18 and osteoarthritis itself19,20. This evidence concerns the gene ACAN and spondyloepiphyseal dysplasia.