Genetics of neural tube defects

Neural tube defects (NTDs) are common congenital malformations that occur when the embryonic neural tube fails to close properly during early development. Although multifactorial in origin, NTDs appear to have a strong genetic component. Mouse NTD mutants provide useful models for the study of candidate genes involved in neural tube development and closure. Because maternal nutrition, specifically folate supplementation, is a significant modulator of NTD risk, genes involved in folate transport and metabolism are a focus of investigation. In addition, transcription factors, as well as genes involved in mitosis, actin regulation, and methylation, appear to be implicated in the causes of NTDs. The heterogeneity of function of candidate genes suggests that alterations in multiple developmental pathways may lead to the same clinical malformation.