Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia - multiple epiphyseal dysplasia disease spectrum

Mutations in the gene for cartilage oligomeric matrix protein (COMP) bring some forms of multiple epiphyseal dysplasia (MED) and bring pseudoachondroplasia (PSACH). Early-onset osteoarthrosis and mild-to-severe short-limb dwarfism occur with PSACH and MED. In 14 families with MED or PSACH phenotypes COMP mutations have been identified. In the region of the COMP gene that encodes the calmodulin-like repeat elements mutations thought likely to bring with them single amino acid deletions/substitution have been found in people with moderate to sever PSACH. In the same domain a missense mutation that brought MED Fairbank was found. It appears that there is phenotype overlap for MED and PSACH. The carboxyl-terminal domain is a factor in the structure and /or function of COMP.