FGFR3突变在软骨发育不良中的分子遗传学机制研究进展  

Advances in studies on molecular genetic mechanism of FGFR3 mutation in achondroplasia

作　　者：彭国璇 邱劲超 陈国昇 甘乐彬 王强 孙红 姜华 邓进 Peng Guoxuan;Qiu Jingchao;Chen Guosheng;Gan Lebin;Wang Qiang;Sun Hong;Jiang Hua;Deng Jin(Clinical College of Medicine,Guizhou Medical University,Guiyang 550025,China;Emergency Medicine,the Affiliated Hospital of Guizhou Medical University,Guiyang 550004,China;Department of Orthopedic,the Affiliated Hospital of Guizhou Medical University,Guiyang 550004,China;Pediatric Orthopaedic,the Affiliated Hospital of Guizhou Medical University,Guiyang 550004,China)

机构地区：[1]贵州医科大学临床医学院,贵阳550025 [2]贵州医科大学附属医院急诊医学科,贵阳550004 [3]贵州医科大学附属医院骨科,贵阳550004 [4]贵州医科大学附属医院小儿骨科,贵阳550004

出　　处：《国际遗传学杂志》2021年第3期200-206,共7页International Journal of Genetics

基　　金：国家自然科学基金(81660317、81772403);贵州省科技创新人才团队([2017]5654)。

摘　　要：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。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 FGFR3 mutation in chondroplasia deformity.There is substantial evidence confirming that FGFR3 mutations causes metabolic disorders of chondroplasia and plays a key role in chondrodysplasia and chondrogenesis.This review aims to illustrate how FGFR3 genetic mutation changes protein structure and may correlate with the molecular genetic mechanism in achondroplasia.

关 键 词：软骨发育不全 成纤维生长因子受体3 分子机制 

分 类 号：R681.3[医药卫生—骨科学]