Congenital heart disease (CHD) is a complex group of birth defects affecting approximately 1 per cemt of live-born infants, and is a leading cause of neonatal mortality. The genetic basis is known in less than 20 per cent cases. We are using next-generation sequencing to identify the genomic basis of CHD. Our study subjects are part of an Ontario-wide biobank and we have currently enrolled 6225 participants with various pediatric heart diseases.
Recently we identified de-novo variants on a highly conserved gene NR2F2 (nuclear receptor subfamily 2, group F, member 2) in a cohort of Atrioventricular septal defects (AVSD) using whole exome sequencing (Al Turki S, Manickaraj AK, Mercer CL, Gerety SS, et.al., An J Hum Genet, 2014), and also identified mutations in several syndrome-associated genes in this cohort (D’Alessandro LC, Al Turki S, Manickaraj AK, Manase D, et.al., Genet Med, 2016). Currently, we are studying patients with bicuspid aortic valve-associated aortopathy, hypoplastic left heart syndrome, tetralogy of Fallot and other CHDs.