Table 2.
Potential candidates for CRISPR-Cas9 genome editing
| CHD | Causative gene(s) | Mutations | Cardiac anomalies | Model system | Cas9 | Ref. |
|---|---|---|---|---|---|---|
| Costello syndrome | HRAS | c.35G>C (exon2) | PS, HCM, CCD | N/A | 145 | |
| Gly13Cys (exon2) | VT, HCM | N/A | 146 | |||
| LEOPARD syndrome | PTPN11 | Tyr279Cys, Tyr279Ser, Ala461Thr, Gly464Ala, Thr468Met, Arg498Trp, Gln506Pro, Gln510Glu | HCM, PS, CCD | N/A | 147 | |
| RAF1 | Ser257Leu Leu613Val | N/A | 147 | |||
| BRAF | Thr241Pro Leu245Phe | N/A | 148 | |||
| RAF1 | exon 7,14,11 | N/A | 127 | |||
| Alagille syndrome | JAG1 | 2026delT 2071T>A, 2078G>A 2091G>A | PS, TOF, ASD, peripheral pulmonary stenosis | N/A | 149 | |
| H268Q | H268Q Jag1+/Ndr mice | N/A | 150 | |||
| NOTCH2 | c.5930 1G>A (exon33), c.1331G>A (exon8) | N/A | 151 | |||
| Nonsyndromic | MyHC6 | 3835C > T, 18429T-> A, 4164C>A, 4395C>A, 5661G>A | ASD, HCM | N/A | 119, 121 |
CRISPR-Cas9, clustered regularly interspaced short palindromic repeats and CRISPR-associated protein 9; CHD, congenital heart disease; PS, pulmonary stenosis; HCM, hypertrophic cardiomyopathy; CCD, cardiac conduction disease; LEOPARD, Lentigines, Electrocardiographic defect, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of the genitalia, Retarded growth and Deafness; VT, ventricular tachyarrhythmia; TOF, tetralogy of Fallot; ASD, atrial septal defect; N/A, not available