A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.
Jiashen ShaoSen ZhaoZihui YanLianlei WangYuanqiang ZhangMao LinChenxi YuShengru WangYuchen NiuXiaoxin LiGuixing QiuJianguo Zhangnull nullZhihong WuNan WuPublished in: BMC medical genetics (2020)
Our results underlined a key role of the Asp385 amino acid in the protein function of COMP and confirmed the pathogenicity of the COMP (c.1153G > T; p. Asp385Tyr) mutation in AD-MED disease. We have therefore expanded the known mutational spectrum of COMP and revealed new phenotypic information for AD-MED.