Department of Allergy, Wei Fang People's Hospital, Weifang, Shandong 261041, China.
Chin Med J (Engl). 2013 Mar;126(6):1103-7.
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).
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.
We have identified a novel mutation in axon 14 of COMP gene in the family.
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.
多发性骨骺发育不良（MED）是一种常见的骨骼发育不良，具有显著的基因座异质性。在大多数临床定义的病例中，已经在编码软骨多效基质蛋白（COMP）的基因中发现了突变。
本研究纳入了 5 名患者。对患者及其家庭成员进行了 COMP 基因突变分析。
我们在该家系中发现了 COMP 基因轴 14 上的一个新突变。
该突变导致了严重的 MED 表型，表现为明显的身材矮小、早发性骨关节炎和显著的影像学改变。我们的结果扩展了 COMP 基因突变的范围，并提供了更多关于突变与表型关系的信息。
