Sperling et al. (2005) screened a cohort of 392 patients with congenital heart defects and 192 controls for mutations in the CITED2 gene and identified a 27-bp insertion (602937.0002) in a patient with a secundum atrial septal defect, ... Sperling et al. (2005) screened a cohort of 392 patients with congenital heart defects and 192 controls for mutations in the CITED2 gene and identified a 27-bp insertion (602937.0002) in a patient with a secundum atrial septal defect, and a 6-bp deletion (602937.0003) in a patient with a sinus venosus atrial septal defect and abnormal pulmonary venous return to the right atria. Functional analysis of the mutations, which were not found in controls, revealed that both significantly reduced the capacity of CITED2 to transrepress HIF1A (603348).