A 2.75-year-old Chinese boy presented with typical clinical features of pseudoachondroplasia, including disproportionate short-limb short stature, brachydactyly, genu yarns and waddling gait. Radiologically, tubular bones were short with widened metaphyses, irregular and small epiphyses; anterior tonguing or beaking of vertebral bodies were characteristic. DNA sequencing analysis of the COMP gene revealed a heterozygous mutation (c.1511G>A, p.Cys504Tyr) in the patient but his parents were unaffected without this genetic change. The missense mutation (c.1511G>A) was not found in 100 healthy controls and has not been reported previously. Our findings expand the spectrum of known mutations in COMP leading to pseudoachondroplasia. (C) 2013 Elsevier B.V. All rights reserved.
基金：
Twelfth Five-year National Science [2012BAI09B04]; Ministry of Health of China [201002006]
第一作者单位：[1]Huazhong Univ Sci & Technol, Tongji Med Coll, Tone Hosp, Dept Pediat, Wuhan 430030, Hubei, Peoples R China
通讯作者：
通讯机构：[1]Huazhong Univ Sci & Technol, Tongji Med Coll, Tone Hosp, Dept Pediat, Wuhan 430030, Hubei, Peoples R China[*1]Tongji Hosp, Dept Pediat, 1095 Jiefang Ave, Wuhan 430030, Peoples R China
推荐引用方式(GB/T 7714)：
Xie Xuemei,Liao Lihong,Gao Jinzhi,et al.A novel COMP mutation in a Chinese patient with pseudoachondroplasia[J].GENE.2013,522(1):102-106.doi:10.1016/j.gene.2013.02.056.
APA：
Xie, Xuemei,Liao, Lihong,Gao, Jinzhi&Luo, Xiaoping.(2013).A novel COMP mutation in a Chinese patient with pseudoachondroplasia.GENE,522,(1)
MLA：
Xie, Xuemei,et al."A novel COMP mutation in a Chinese patient with pseudoachondroplasia".GENE 522..1(2013):102-106
