Research progress of mouse models in craniosynostosis

VernacularTitle:颅缝早闭相关小鼠模型研究进展
Author: Yingying YUE ¹ ; Xiaolei JIN
Author Information

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
Keywords: Craniosynostoses; Genetic variation; Gene expression regulation; Mouse model
From: Chinese Journal of Plastic Surgery 2024;40(7):811-816
CountryChina
Language:Chinese
Abstract: 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.