Craniosynostosis Pathogenesis

Becker LE, Hinton DR. Pathogenesis of craniosynostosis. Pediatr Neurosurg. 1995;22(2):104-7. doi: 10.1159/000120885. PMID: 7710971.

The convergence of multi-signals on the Erk1/2 signaling pathway indicated the vital role of Erk1/2 in the pathogenic processes of craniosynostosis. Over the past years, researchers tried to interfere the processes of suture fusion via molecule mechanisms, especially FGFs and related signaling 1) 2) 3)

1)
Shukla V, Coumoul X, Wang RH. et al. RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nat Genet. 2007;39:1145–50.
2)
Morita J, Nakamura M, Kobayashi Y. et al. Soluble form of FGFR2 with S252W partially prevents craniosynostosis of the apert mouse model. Dev Dynam. 2014;243:560–7.
3)
Yin L, Du X, Li CL. et al. A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis. Bone. 2008;42:631–43.