EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with mu

• 作 者: LIU Feng-xia LI Yan-xiang ZHAN
• 机 构: Department of Allergy,Wei Fang People’s Hospital, Weifang,Shandong 261041, China“,”Shandong Universi
• 出 处: 中华医学杂志（英文版）
• 发表日期: 2013年6期
• 关键词: multiple epiphysis dysplasia gene mutation cartilage oligomeric matrix protein

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.