Importantly, nine genes (CALR3, CTNNA3, CYP27B1, LMO1, RAB19, RABL5, SLC gene family, ZIC, WNT) in NTD-specific CNVs are homologous to genes that have been reported as NTD candidate genes in mouse models (labeled yellow in Table S5), suggesting that a subset of genes in NTD-specific CNVs is directly contributing to the pathogenesis of NTDs in some samples. The gene discussed is CYP27B1; the disease is neural tube defect.