颅缝早闭畸形的遗传学研究进展

Advances in Molecular Genetics of Craniosynostosis

颅缝早闭症是一种常见的先天性颅颌面畸形,严重影响患儿发育,对该疾病遗传机制的研究和防治具有重要意义。通过颅骨发育、颅缝闭合的理论,现有细胞与动物研究模型,以及遗传学研究,在先天性颅缝早闭畸形病因分析中的现状和进展进行综述,并列出了近年来与颅骨发育、颅缝闭合相关的主要基因。

Craniosynostosis is among the most common congenital craniofacial deformities. Subsequent consequences for affected children lead to multiple developmental problems. Better understanding of molecular mechanisms could provide new targets for the development of novel treatment strategies. The mechanisms of cranial suture fusion and osteogenesis, current cell culture and mouse models and molecular genetic related to Craniosynostosis are reviewed.