Table 2 |
|
|
Genetic disorders and the mutant cartilage matrix proteoglycans and proteins with which they are associated |
|
| Mutant matrix molecule |
Associated disorder1 |
|
|
|
| Aggrecan (impaired core |
Cartilage matrix deficiency (in mice) |
| protein synthesis) |
Nanomelia (in chickens) |
| Brachymorphism (in mice) |
|
| Aggrecan (impaired |
Diastrophic dysplasia |
| glycosaminoglycan sulfation) |
Achondrogenesis 1B |
| Atelosteogenesis type II |
|
| Perlecan |
Chondrodystrophic myotonia |
| Dyssegmental dysplasia |
|
| SZP |
Camptodactyly-arthropathy- |
| coxa vara-pericarditis syndrome |
|
| COMP |
Pseudoachondroplasia |
| Multiple epiphyseal dysplasia |
|
|
|
|
|
1Human disorder unless indicated otherwise. COMP = cartilage oligomeric protein; SZP = superficial zone protein. |
|
|
Roughley Arthritis Res 2001 3:342 doi:10.1186/ar326 |
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