PARD3 and isolated spina bifida: Interestingly, in a recent study including 138 patients with neural tube defect (NTD), rare heterozygous variants in the PARD3 gene were identified and were shown to be significantly enriched in the aPKC-binding region resulting in defective tight junction formation via disrupted aPKC binding, suggesting that these deleterious variants contribute to human NTDs possibly by preventing apical tight junction formation and subsequent polarization process of the neuroepithelium [3].