Ser217Cys mutation in the Ig Ⅱ domain of FGFR3 in a Chinese family with autosomal dominant achondroplasia  

作　　者：ZHANG Shi-rong ZHOU Xiao-qing REN Xiang WANG Tian-tian YUAN Ming-xiong WANG Qing LIU Jing-yu LIU Mu-gen 

机构地区：[1]Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan 430074, China [2]Family Planning Instruction Station, Jiangshan 324100, China [3]Department of Molecular Cardiology, the Cleveland Clinic Foundation, Cleveland 44195, USA

出　　处：《Chinese Medical Journal》2007年第11期1017-1019,共3页中华医学杂志（英文版）

基　　金：the funds of the National HighTechnology Research and Development Program of China (863 Program, No. 2002BA711A07);the 10th Five Years Key Programs for Science and Technology Development of China (No. 2004BA720A02); the National Natural Science Foundation of China (No. 30470982)

摘　　要：Achondroplasia （ACH） is the most common form of skeletal dysplasia characterized by disproportionately short stature, lumbar lordosis, relative macrocephaly and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. The combined frequency of the disease has been estimated to be 1 in 15 000 live births.1 ACH is inherited in autosomal dominant fashion with a complete penetrance, more than 80% of affected individuals have de novo mutations associated with increased paternal age.Achondroplasia （ACH） is the most common form of skeletal dysplasia characterized by disproportionately short stature, lumbar lordosis, relative macrocephaly and other skeletal anomalies resulting from a defect in the maturation of the chondrocytes in the growth plate of the cartilage. The combined frequency of the disease has been estimated to be 1 in 15 000 live births.1 ACH is inherited in autosomal dominant fashion with a complete penetrance, more than 80% of affected individuals have de novo mutations associated with increased paternal age.

关 键 词：fibroblast growth factor receptor 3 ACHONDROPLASIA mutation  linkage analysis 

分 类 号：R681.3[医药卫生—骨科学] R596[医药卫生—外科学]