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软骨发育不全(achondroplasia，ACH)是一种常染色体显性遗传疾病，其临床特征主要表现为头颅增大、头顶隆起、胸腰椎后凸畸形、肢体短缩，是人类常见的非致死性遗传性骨病。成纤维生长因子受体3(fibroblast growth factor receptor 3，FGFR3)功能异常常常导致软骨发育不全(achondroplasia，ACH)、软骨发育不良(hypochondroplasia，HCH)及致死性骨发育不全(thanatophoric dysplasia，TD)等软骨发育性疾病。近年来，关于n FGFR3基因突变在软骨发育异常疾病分子遗传机制的研究较多，大量研究证实n FGFR3基因突变可导致软骨代谢紊乱，在软骨发育异常、软骨发育停滞等病理过程中发挥重要作用。本文就n FGFR3基因突变、蛋白构象改变在软骨发育不全的分子遗传学机制进行综述。n “,”Achondroplasia(ACH)is the most common form of short limb dwarfism caused by autosomal dominant genetic mutation in human beings, leading to a variety of manifestations and complications including head enlargement, parietal protuberances, thoracolumbar kyphosis, and limb shortening.A gain of FGFR3 function correlates with chondrodysplasia syndromes that include achondroplasia(ACH), hypochondroplasia (HCH)and thanatophoric dysplasia(TD). Recently, increasing studies have been focused on the mechanisms underlying n FGFR3 mutation in chondroplasia deformity.There is substantial evidence confirming that n FGFR3 mutations causes metabolic disorders of chondroplasia and plays a key role in chondrodysplasia and chondrogenesis.This review aims to illustrate how n FGFR3 genetic mutation changes protein structure and may correlate with the molecular genetic mechanism in achondroplasia.n