Mutations in NKX2-5 (5q35.1), GATA4 (8q23.1), ZFPM2 (8q23.1), GATA6 (18q11.2), GDF1 (19p13.11), JAG1 (20p12.2), and TBX1 (22q11.21) have been reported in sporadic cases with tetralogy of Fallot; however, interaction of these genes and FMR1 gene has never been reported [49]. The gene discussed is NKX2-5; the disease is Tetralogy of Fallot.