PAK2 and neural tube defect: To establish a direct relationship between PAK2 and NTD pathology, we reanalyzed the genetic variation based on whole genome sequencing data in 100 Chinese fetuses with NTDs[34] and identified a nonsynonymous mutation (c.451C>T, p.P151S) and one recurrent splice site mutation (c.289‐3T>A) in the PAK2 gene in three independent patients.