However, Wat et al. (87) have recently demonstrated that haploinsufficiency of Sox7 or Gata4 is enough to cause retrosternal diaphragmatic defects in mice and that haploinsufficiency of SOX7 and GATA4 may in turn be involved in the pathogenesis of CDH in patients with 8p23.1 deletions. The gene discussed is SOX7; the disease is congenital diaphragmatic hernia.