Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) belong to the family of bone dysplasia disorders, which are both genetically and phenotypically heterogeneous. Both disorders are caused by mutations in the cartilage oligomeric matrix protein (COMP). COMP is a member of the thrombospondin (TSP) family, which plays an important role in skeletal development. In this paper, we mainly review the latest advances on the structure, function of COMP. We also discuss the types of COMP mutations, the detection methods and the relationship between the COMP gene and these two diseases.