Genetic research progress in congenital craniosynostosis

VernacularTitle:先天性颅缝早闭症的遗传学研究进展
Author: Yingzhi WU ¹ ; Meifang PENG ; Xiongzheng MU
Author Information

1. 复旦大学附属华山医院整形外科，上海　200040
Keywords: Craniosynostosis; Molecular genetic; Syndromic craniosynostosis; Non-syndromes craniosynostosis
From: Chinese Journal of Plastic Surgery 2022;38(5):595-600
CountryChina
Language:Chinese
Abstract: Craniosynostosis (CS) is a congenital skeletal disease caused by premature fusion of one or more cranial sutures. According to whether accompanied by injuries in other organ systems besides craniofacial deformity, CS can be divided into syndromic craniosynostosis (SCS) and non-syndromes craniosynostosis (NSC), accounting for 85% and 15% respectively. Especially, SCS can lead to more serious clinical symptoms. The occurrence of CS is influenced by both environmental and genetic factors, including monogenic mutation, chromosome abnormality and gene polymorphism. Common related genes include FGFR1, FGFR2, FGFR3, TWIST1, MSX1, ERF, TCF12. Most of published genetic studies on CS are concentrated in the European population, showing different genetic pathogenesis between SCS and NSC. Studies on molecular genetics of CS is important in the clinical diagnosis, treatment and genetic counseling. We reviewed the research status and progress of the pathogenesis of CS through the development of CS, as well as the genetic studies of SCS and NSC.