PDGFRA is a cell‐surface tyrosine kinase receptor, which has an essential role in embryonic development and cell proliferation.41 Homozygous Pdgfra mutant mice are embryonic lethal presenting with a wavy neural tube and cranial region closure failure.34 In humans, the PDGFRA‐promoter haplotype H1 was found to confer low transcriptional activity and has been associated with increased NTD risk.35 Therefore, it is possible that the reduced abundance of PDGFRA caused by the LoF variant could have led to the anencephaly phenotype in our patient. This evidence concerns the gene PDGFRA and neural tube defect.