A number of genes already known to cause CHD were identified, such asPTPN11 (Noonan syndrome),KMT2D (MLL2 Kabuki syndrome),MYH6 (atrial septal defects, cardiomyopathy),JAG1 (Alagille syndrome),CHD7 (CHARGE syndrome),ZEB2 (Mowat Wilson syndrome), andNOTCH1 (aortic valve disease and Adams Oliver syndrome).RBFOX2 was a novel gene. The gene discussed is KMT2D; the disease is CHARGE syndrome.