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Letter

Nature Genetics 39, 1145–1150 (1 September 2007) | doi:10.1038/ng2096

RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis

Vivek Shukla , Xavier Coumoul , Rui-Hong Wang , Hyun-Seok Kim & Chu-Xia Deng

Premature fusion of one or more of the cranial sutures (craniosynostosis) in humans causes over 100 skeletal diseases, which occur in 1 of |[sim]|2,500 live births. Among them is Apert syndrome, one of the most severe forms of craniosynostosis, primarily caused by missense mutations leading to amino acid changes S252W or P253R in fibroblast growth factor receptor 2 (FGFR2).