Related Experiment Videos
Osteoarthritis in children associated with a mutation in the type II procollagen gene (COL2A1)
R J Mier1, D Holderbaum, R Ferguson
1Shriners Hospital for Children, 1900 Richmond Road, Lexington, KY 40502, USA. rjmier@aol.com
Insights
A specific gene mutation (COL2A1 R519C) can cause early-onset osteoarthritis in children. This condition should be considered in childhood joint problems, especially with a family history.
Area of Science:
- Genetics
- Orthopedics
- Pediatrics
Background:
- A specific mutation in the type II procollagen gene (COL2A1), arginine-519-cysteine (R519C), is linked to precocious osteoarthritis.
- The clinical presentation of this condition in childhood has not been well-described.
Observation:
- Four children with the COL2A1 R519C mutation were recently evaluated.
- This allowed for clinical correlation and description of the childhood disease manifestation.
Findings:
- The COL2A1 R519C mutation can manifest as premature osteoarthritis in childhood.
- Affected children may present with mild spinal chondrodysplasia but without severe foreshortening.
Implications:
- This genetic form of premature osteoarthritis should be included in the differential diagnosis of childhood arthropathies.
- A positive family history may warrant consideration of this specific mutation in pediatric joint conditions.
Abstract:
A single-base mutation resulting in an arginine-519-cysteine (R519C) mutation of type II procollagen (COL2A1) has been shown to result in precocious osteoarthritis with mild spinal chondrodysplasia without severe foreshortening (OMIM 604864). The nature of childhood disease among affected individuals has not been described. The recent presentation of four children with this mutation allows us to provide clinical correlation. This form of premature osteoarthritis may present in childhood and should be considered in the differential diagnosis of childhood arthropathy presenting in the context of a positive family history.