Another large cohort GWES study by Sifrim et al. (2016) demonstrated that genes NOTCH1 (0.47%, 4/847), FBN2 (0.24%, 2/847), SOS1 (0.24%, 2/847), NOTCH2 (0.24%, 2/847) recurrently detected protein-truncating variants in non-syndromic CHD cases, while protein-truncating variants in gene NSD1, KMT2A, and ADNP were detected in 0.77% (4/518) syndromic CHD cases separately, and followed by gene CHD7, KMT2D, and ANKRD11 in 0.58% (3/518) and gene MED13L in 0.39% (2/518) syndromic CHD cases. The gene discussed is NOTCH1; the disease is coronary artery disorder.