- Jin, Sheng Chih;
- Homsy, Jason;
- Zaidi, Samir;
- Lu, Qiongshi;
- Morton, Sarah;
- DePalma, Steven R;
- Zeng, Xue;
- Qi, Hongjian;
- Chang, Weni;
- Sierant, Michael C;
- Hung, Wei-Chien;
- Haider, Shozeb;
- Zhang, Junhui;
- Knight, James;
- Bjornson, Robert D;
- Castaldi, Christopher;
- Tikhonoa, Irina R;
- Bilguvar, Kaya;
- Mane, Shrikant M;
- Sanders, Stephan J;
- Mital, Seema;
- Russell, Mark W;
- Gaynor, J William;
- Deanfield, John;
- Giardini, Alessandro;
- Porter, George A;
- Srivastava, Deepak;
- Lo, Cecelia W;
- Shen, Yufeng;
- Watkins, W Scott;
- Yandell, Mark;
- Yost, H Joseph;
- Tristani-Firouzi, Martin;
- Newburger, Jane W;
- Roberts, Amy E;
- Kim, Richard;
- Zhao, Hongyu;
- Kaltman, Jonathan R;
- Goldmuntz, Elizabeth;
- Chung, Wendy K;
- Seidman, Jonathan G;
- Gelb, Bruce D;
- Seidman, Christine E;
- Lifton, Richard P;
- Brueckner, Martina
Congenital heart disease (CHD) is the leading cause of mortality from birth defects. Here, exome sequencing of a single cohort of 2,871 CHD probands, including 2,645 parent-offspring trios, implicated rare inherited mutations in 1.8%, including a recessive founder mutation in GDF1 accounting for ∼5% of severe CHD in Ashkenazim, recessive genotypes in MYH6 accounting for ∼11% of Shone complex, and dominant FLT4 mutations accounting for 2.3% of Tetralogy of Fallot. De novo mutations (DNMs) accounted for 8% of cases, including ∼3% of isolated CHD patients and ∼28% with both neurodevelopmental and extra-cardiac congenital anomalies. Seven genes surpassed thresholds for genome-wide significance, and 12 genes not previously implicated in CHD had >70% probability of being disease related. DNMs in ∼440 genes were inferred to contribute to CHD. Striking overlap between genes with damaging DNMs in probands with CHD and autism was also found.