FGFR3 基因导致身材矮小的研究进展

文纨 于(济宁医学院临床医学院（附属医院），中国;)
梅 张(济宁医学院附属医院内分泌科，中国;)

摘要

成纤维生长因子受体3（FGFR3）基因突变是多种遗传性骨骼发育异常疾病重要的分子基础，在软骨发育不全（ACH）及软骨发育低下症（HCH）等身材矮小症中比较典型。FGFR3作为受体酪氨酸激酶，直接调控软骨细胞的增殖和分化，故其突变会导致受体异常激活，抑制软骨细胞正常生长，进而引起骨骼发育障碍。目前对FGFR3基因突变类型及分子作用机制已有一定的研究基础，但是针对FGFR3信号通路的调控及相关疾病的治疗手段仍存在不足。因此本文对FGFR3基因的主要突变形式、分子机制、临床表型及干预策略系统综述，并对近年来FGFR3信号调控及治疗靶点研究的最新进展总结，为相关疾病的诊断、治疗提供理论支撑。

关键词

FGFR3；身材矮小；分子机制；疾病诊断；治疗策略

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DOI: http://dx.doi.org/10.12345/yzlcyxzz.v9i6.40124