一多发性骨骺发育不良家系COMP基因新突变位点的发现

Multiple Epiphyseal Dysplasia, EDM1: A Novel Point mutation in Cartilage Oligomeric Matrix Protein Gene in a Chinese family

Background Multiple epiphysis dysplasia (MED) is a common skeletal dysplasia with a significant locus heterogeneity. In the majority of clinically defined cases, mutations have been identified in the gene encoding cartilage algometric matrix protein (COMP).Methods Five patients were included in the study. Linkage analysis and mutation analysis of the COMP gene were conducted in the patients and there family members.Results We have identified a novel mutation in axon 14 of COMP gene in the family. Conclusion This mutation produced a severe MED phenotype with marked short stature, early onset osteoarthritis and remarkable radiographic changes. Our results extend the range of disease-causing mutations in COMP gene and contributed more information abort relationship between mutations and phenotype.