Pseudoachondroplasia (PSACH) is an autosomal dominant disorder characterized by disproportionate short stature and precocious osteoarthritis. Radiographic manifestations include epiphyseal, metaphyseal and vertebral abnormalities. Mutations in the cartilage oligomeric matrix protein (COMP) have been identified to cause PSACH. Most of them affect one of the eight calcium-binding domains of COMP. We describe a clinically and radiologically typical PSACH 4-year-old girl and her 31-year-old father. A novel mutation, 1345-1347CCC deletion in exon 13, of COMP was identified in both patients. The deletion would be expected to result in the loss of the conserved proline at codon 449 from the sixth calcium-binding domain. This result further supports that COMP is the only gene, discovered to date, responsible for PSACH across different populations and that the calcium-binding domains are important to the function of the normal COMP.

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