Mutations in GATA4 that are associated with pulmonic stenosis in the setting of an atrial septal defect have been reported in four separate families, three families with p.Gly296Ser mutations and one family with a p.Lys319Glu mutation (Garg et al., 2003; Sarkozy et al., 2005; Xiang et al., 2014). The gene discussed is GATA4; the disease is Pulmonic stenosis.