FGFR3突变与软骨发育不全的研究进展

Research progress on the FGFR3 gene mutation and achondroplasia

软骨发育不全(achondroplasia,ACH,MIM100800)是人类侏儒症最常见的形式,是非致死性的一种常染色体显性遗传疾病。他以短肢、躯干相对正常和巨头为特征。新生儿的发病率大约为1∶20 000。近年来ACH的基因分子诊断取得了突破性的进展,揭示软骨发育不全与成纤维细胞生长因子受体3(fibroblast growth factor receptor,FGFR3,MIM134934)基因跨膜区的突变密切相关。这种突变有突变热点,95%以上的患者,380位密码子的错义突变,精氨酸替代了甘氨酸。

Achondroplasia （achondroplasia, ACH, MIM100800）, the most common form of human dwarfism is a non - lethal autosomal dominant condition that occurs in approximately 1 ： 20 000 births. The phenotype is characterized by rhizomelic disproportionate short stature, normo - pars trunci correspond, associated with enlarged head. Recently, there is a breakthrough advancement in the research of the ACH gene reveals that ACH results from a single point mutation in Fibroblast Growth Factor Receptor 3 （ fibroblast growth factor receptor, FGFR3, MIM134934） transmembrane domain. In 95% of the patients, there is a Glycine to Arginine substitution at position 380.