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 their family members. RESULTS: We have identified a novel mutation in axon 14 of COMP gene in the family. CONCLUSIONS: This mutation produced a severe MED phenotype with marked short stature, early onset osteoarthritis, and remarkable radiographic changes. Our results extended the range of disease-causing mutations in COMP gene and contributed more information about relationship between mutations and phenotype.
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 their family members. RESULTS: We have identified a novel mutation in axon 14 of COMP gene in the family. CONCLUSIONS: This mutation produced a severe MED phenotype with marked short stature, early onset osteoarthritis, and remarkable radiographic changes. Our results extended the range of disease-causing mutations in COMP gene and contributed more information about relationship between mutations and phenotype.