GATA4 is located in the chromosomal region 8p23.1, and microdeletions of 8p23.1 and single-nucleotide mutations in GATA4 are associated with CDH (Arrington et al., 2012; Longoni et al., 2012; Wat et al., 2009). Here, GATA4 is linked to congenital diaphragmatic hernia.