Grant supporters: National Health and Medical Research Council (NHMRC) Australia.
Clinical phenotypes associated with type II collagen mutations
Version of Record online: 18 FEB 2011
© 2011 The Authors. Journal of Paediatrics and Child Health © 2011 Paediatrics and Child Health Division (Royal Australasian College of Physicians)
Journal of Paediatrics and Child Health
Volume 48, Issue 2, pages E38–E43, February 2012
How to Cite
Kannu, P., Bateman, J. and Savarirayan, R. (2012), Clinical phenotypes associated with type II collagen mutations. Journal of Paediatrics and Child Health, 48: E38–E43. doi: 10.1111/j.1440-1754.2010.01979.x
- Issue online: 9 FEB 2012
- Version of Record online: 18 FEB 2011
- Accepted for publication 5 August 2010.
- bilateral Perthes disease;
- epiphyseal dysplasia;
- multiple epiphyseal dysplasia (MED);
- skeletal dysplasia;
- stickler syndrome
COL2A1 mutations give rise to a spectrum of phenotypes predominantly affecting cartilage and bone from the severe disorders that are perinatally lethal to the milder conditions that are recognised in the post-natal period and childhood. The milder chondrodysplasias are characterised by disproportionate short stature, eye abnormalities, cleft palate and hearing loss. It remains poorly recognised that there is significant variability in the disease presentation, with early onset short stature conditions and later onset milder phenotypes. Similarly, it is under-acknowledged that COL2A1 mutations may solely cause joint disease in the absence of the other mentioned phenotypic clues. The underlying hypothesis is that there are novel phenotypes caused by mutations in type II collagen that extend from premature arthritis through to more severe bone dysplasias. The importance of finding a COL2A1 mutation lies in the subsequent ability to accurately assess recurrence risks and offer information regarding disease natural history. Most importantly, it enables at-risk individuals to be identified for implementation of preventative strategies and early ameliorative management of their condition. Such interventions potentially translate into a reduction in health costs associated with musculoskeletal disease.