COL2A1 mutation as a cause of premature osteoarthritis in a 13-year-old child

Area of Science:

• Genetics
• Orthopedics
• Pediatrics

Background:

• Diagnosing osteoarthritis in children and adolescents presents significant challenges.
• Early detection is crucial for effective management and preventing long-term complications.

Observation:

• A family presented with a COL2A1 mutation (R275C), identified in the sixth reported family with this specific genetic alteration.
• Affected individuals experienced severe coxarthrosis, with some requiring surgical intervention.
• Distinct phenotypes were observed, including hearing impairment in the mother and brachydactyly of the fourth digit in her children.

Findings:

• The index patient sustained a femoral neck fracture following minor trauma, preceding radiological detection of osteoarthritis.
• The COL2A1 R275C mutation is associated with severe hip osteoarthritis and fractures in pediatric and adolescent populations.
• Phenotypic variability exists, with features like hearing loss and brachydactyly potentially linked to the mutation.

Implications:

• Unexplained hip fractures or osteoarthritis in young individuals warrants genetic evaluation.
• Accurate genetic classification aids in precise diagnosis and appropriate genetic counseling for affected families.
• Understanding the genotype-phenotype correlations of COL2A1 mutations can improve diagnostic strategies for pediatric osteoarthritis.