Cell Mechanics of Craniosynostosis

Craniosynostosis is the premature fusion of the calvarial sutures that is associated with a number of physical and intellectual disabilities spanning from pediatric to adult years. Over the past two decades, techniques in molecular genetics and more recently, advances in high-throughput DNA sequencing have been used to examine the underlying pathogenesis of this disease. To date, mutations in 57 genes have been identified as causing craniosynostosis and the number of newly discovered genes is growing rapidly as a result of the advances in genomic technologies. While contributions from both genetic and environmental factors in this disease are increasingly apparent, there remains a gap in knowledge that bridges the clinical characteristics and genetic markers of craniosynostosis with their signaling pathways and mechanotransduction processes. By linking genotype to phenotype, outlining the role of cell mechanics may further uncover the specific mechanotransduction pathways underlying craniosynostosis. Here, we present a brief overview of the recent findings in craniofacial genetics and cell mechanics, discussing how this information together with animal models is advancing our understanding of craniofacial development.