中华骨质疏松和骨矿盐疾病杂志Issue(3)：210-214,5.DOI:10.3969/j.issn.1674-2591.2015.03.004
软骨发育不全患者的临床特点及FGFR3基因突变
Clinical features and FGFR3 gene mutation of patients with achondroplasia
摘要
Abstract
Objective To analyze the clinical features and the mutation of FGFR 3 gene in four achondroplasia (ACH) patients.Methods The clinical data of the four patients were collected , polymerase chain reaction (PCR) was performed to amplify the fibroblast growth factor receptor 3 (FGFR3) gene and the mutation was analysed by direct DNA se-quencing.Results The clinical manifestations of the four patients were distinctive , such as postnatal dwarfism , large head, short limbs with long trunk, and trident hand.X-ray imaging was accordant with the diagnosis of ACH .The same C.1138G>A heterozygous mutation of FGFR3 gene was detected in four patients .Conclusion The mutation C.1138G>A in FGFR3 gene is the pathogenic genotype of ACH .Screening of the mutation of FGFR3 gene can help the diagnosis .关键词
软骨发育不全/FGFR3基因/基因突变Key words
achondroplasia/fibroblast growth factor receptor 3/gene mutation分类
医药卫生引用本文复制引用
林园园,姜艳,侯艳芳,王鸥,李梅,邢小平,董进,夏维波..软骨发育不全患者的临床特点及FGFR3基因突变[J].中华骨质疏松和骨矿盐疾病杂志,2015,(3):210-214,5.基金项目
国家自然科学基金 （）
