Mutational analysis of JAG1 gene in non-syndromic Tetralogy of Fallot children

► The present study investigated JAG1 gene mutations in patients with Tetralogy of Fallot (TOF). ► We utilized PCR-SSCP for screening the TOF patients. ► Four novel variations 765 C>A, 814 G>T, 834 G>T; and 816 G>T were identified. ► These variations effect EGF like repeat and disturb ligand-receptor binding ability. ► Novel JAG1 gene variations play an important role in the causation of TOF