颅缝早闭相关小鼠模型研究进展  

Research progress of mouse models in craniosynostosis

作　　者：岳莹莹 靳小雷 Yue Yingying;Jin Xiaolei(The First Department of Plastic Surgery,Plastic Surgery Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100144,China)

机构地区：[1]中国医学科学院北京协和医学院整形外科医院颅颌面一科,北京100144

出　　处：《中华整形外科杂志》2024年第7期811-816,共6页Chinese Journal of Plastic Surgery

摘　　要：颅缝早闭遗传机制的研究与防治具有重要社会意义。与颅缝早闭发病相关的FGFR1、FGFR2、FGFR3、TWIST1、MSX2、RAB、ERF等人类突变基因的鉴定,激发了大量具有类似功能获得或缺失突变的基因重组动物模型的产生来模拟颅缝早闭各种表现形式。小鼠与人类颅面发育和分子通路的相似性使其成为研究颅缝早闭的良好动物模型。该文对目前已知的综合征型、非综合征型以及非人类基因突变的颅缝早闭相关小鼠模型研究进展进行了综述,以期为该疾病的遗传学发病机制及治疗提供更加全面以及系统的认识。Craniosynostosis is a prevalent congenital craniofacial anomaly characterized by premature fusion of cranial sutures.It is of great social significance for the study and prevention of the genetic mechanism of craniosynostosis.Mutant genes such as FGFR1,FGFR2,FGFR3,TWIST1,MSX2,RAB,ERF related to craniosynostosis has been identified in humans,leading to the generation of a large number of recombinant animal models with similar functional acquisition or loss mutations to simulate various manifestations of craniosynostosis.The similarity of craniofacial development and molecular pathways between mice and humans makes them a good animal model for studying craniosynostosis.This article reviews the research progress of mouse models related to syndromic,non-syndromic craniosynostosis and craniosynostosis with non-human gene mutations,in order to provide a more comprehensive and systematic understanding of the genetic pathogenesis and treatment of this disease.

关 键 词：颅缝早闭 遗传变异 基因表达调控 小鼠模型 

分 类 号：R651.1[医药卫生—外科学] R-332[医药卫生—临床医学]