Mutations in COL2A1 gene may result in cartilage alterations characterized by progressive degeneration at the joints (patients with osteoarthritis with mild chondrodysplasia), by hypercellular cartilage with large chondrocytes (Torrance type of platyspondylic lethal skeletal dysplasia) or by a translucent and abnormal gelatinous texture (achondrogenesis type II). Here, COL2A1 is linked to skeletal dysplasia.