Single-suture craniosynostosis and the epigenome: current evidence and a review of epigenetic principles

Abstract

Craniosynostosis (CS) is a congenital disease that arises due to premature ossification of single or multiple sutures, which results in skull deformities. The surgical management of single-suture CS continues to evolve and is driven by a robust body of clinical research; however, the molecular underpinnings of CS remain poorly understood. Despite long-standing hypotheses regarding the interaction of genetic predisposition and environmental factors, formal investigation of the epigenetic underpinnings of CS has been limited. In an effort to catalyze further investigation into the epigenetic basis of CS, the authors review the fundamentals of epigenetics, discuss recent studies that shed light on this emerging field, and offer hypotheses regarding the role of epigenetic mechanisms in the development of single-suture CS.