Coding region variation (including point mutation and indel) and CNV analysis revealed that among the candidate genes that are known to be associated with ASD (MYH6, TBX20, ACTC1, TLL1, NKX2.5, CITED2, GATA6, CRELD1, TBX5 and GATA4), only GATA4 had a nonsynonymous mutation (see Supplementary Table S1). This evidence concerns the gene NKX2-5 and atrial septal defect.