致死性发育不良Ⅰ型与成纤维细胞生长因子受体-3致病基因

Type Ⅰ of Thanatophoric Dysplasia and Pathogenic Gene of FGFR-3

致死性发育不良(TD)是一种严重的短肢侏儒症,临床上以四肢短小、胸腔狭窄、脑积水等为特征,是由成纤维细胞生长因子受体-3(FGFR3)基因突变所致。根据患者是否有弯曲的股骨,将TD分为TDⅠ和TDⅡ两种亚型,TDⅠ患者股骨弯曲,伴有或不伴有三叶草头骨,TDⅡ患者有直的股骨,均具有严重的三叶草头骨。本文主要就TDⅠ临床表现,致病基因FGFR3的结构、功能、致病机制和产前诊断的有关进展作一综述。

Thanatophoric dysplasia(TD)is a severe short-limb dwarf disease characterized by short limbs,thoracic stenosis and brain malformation,which is caused by fibroblast growth factor receptor-3(FGFR3)gene mutation.According to whether the patient had bending femur,TD was divided into two subtypes:TDⅠ and TDⅡ.TDⅠ patients had bending femur,with or without clover skull.TDⅡ patients had straight femur,with severe clover skull.This paper mainly reviews the clinical manifestations of TDⅠ,the structure,function,pathogenesis and prenatal diagnosis of FGFR3.