EDM1: a novel point mutation in cartilage oligomeric matrix protein gene in a Chinese family with multiple epiphyseal dysplasia
第一作者:LIU Feng-xia
2013-04-02 点击量:668 我要说
LIU Feng-xia, LI Yan-xiang, ZHANG Xu-de, REN Cui-ai, HUANG Shang-zhi, YU Meng-xue
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.