As we previously found that WIPI1 knockdown in zebrafish causes convergent extension defect, and WD repeat protein (encoded by WIPI1 gene) plays an important role in the autophagy pathway which is considered to be essential for neural tube closure (Fimia et al., 2007; Xu et al., 2013), we further determined whether variants of WIPI1 gene increase NTD risk in a large cohort. This evidence concerns the gene WIPI1 and neural tube defect.