[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.
Wang
Jing-Jing
JJ
Department of Medical Genetics, Sun Yat-sen Medical College, Sun Yat-sen University, Guangzhou 510080, China. wjj_crystal@yahoo.com.cn
Guo
Yi-Bin
YB
D000818:Animals; D064236:Cartilage Oligomeric Matrix Protein; D004252:DNA Mutational Analysis; D016326:Extracellular Matrix Proteins / Q000235:genetics; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D064235:Matrilin Proteins; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*
D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; D064235:Matrilin Proteins; C577553:TSP5 protein, human