- 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
- et al.
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.