关键词: 软骨低聚物基质蛋白, 基因突变, 基因诊断, 多发性骨骺发育不良, 假性软骨发育不全

Abstract:

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.