首页>
中文期刊>
《中华医学杂志(英文版)》
>EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia
EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia
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 COMPgene 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.
展开▼
Department of Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing 100730, China;