Table 1.
Genes Involved in Heart Development Associated with Congenital Heart Defects
| Gene | Cytogenic location | Function | Mim number | Chd associated phenotype | Reference |
|---|---|---|---|---|---|
| Transcription genes | |||||
| CITED2 | 6q24.1 | Transcriptional modulator/co-activator | 602937 | ASD, VSD | MacDonald et al. (2013) |
| FOXH1 | 8q24.3 | Forkhead activin signal transducer-1 | 603621 | VSD, TGA | Barnes and Black (2016) |
| FOXP1 | 3p13 | Forkhead box P1 protein | 605515 | Bekheirnia et al. (2017) | |
| GATA4 | 8p23.1 | Zinc-finger transcription factor | 600576 | ASD, TOF, PDA, AVSD | Ang et al. (2016) |
| GATA6 | 18q11.2 | Zinc-finger transcription factor | 601656 | ASD, TOF, PDA, AVSD | Li et al. (2014a) |
| IRX4 | 5p15.33 | Iroquois homeobox 4 transcription factor | 606199 | VSD | Cheng et al. (2011) |
| MED13 L | 12q24.21 | Mediator complex transcriptional co-activator | 608771 | d-TGA | Asadollahi et al. (2013) |
| NKX2-5 | 5q35.1 | Homeobox-containing transcription factor | 600584 | ASD, AVSD, TOF, VSD | Xu et al. (2017) |
| NKX2-6 | 8p21.2 | Homeobox-containing transcription factor | 611770 | TA | Wang et al. (2015) |
| TBX5 | 12q24.21 | T-box genes transcription factors | 601620 | VSD | Chen et al. (2017) |
| TBX20 | 7p14.2 | T-box genes transcription factors | 606061 | ASD | Hu et al. (2013) |
| ZFPM2/FOG2 | 8q23.1 | Zinc-finger transcription factor/coactivator | 603693 | TOF | Zhang et al. (2014) |
| ZIC3 | Xq26.3 | Zinc-finger transcription factor | 300265 | Congenital heart defects | Cowan et al. (2014) |
| Structural proteins | |||||
| ACTC1 | 15q14 | Cardiac smooth muscle actin | 102540 | ASD | Greenway et al. (2014) |
| MYH6 | 14q11.2 | Cardiac muscle myosin Heavy chain | 160710 | ASD | Posch et al. (2011) |
| MYH7 | 14q11.2 | Cardiac muscle myosin Heavy chain | 160760 | Left ventricular noncompaction | Khodyuchenko et al. (2015) |
| MYH11 | 16p13.11 | Smooth muscle myosin heavy chain | 160745 | PDA | Harakalova et al. (2013) |
| NOTCH1 | 9q34.3 | Transmembrane protein | 109730 | AVD, LVOTO | Theodoris et al. (2015); Preuss et al. (2016) |
| Other | |||||
| CRELD1 | 3p25.3 | Cell adhesion | 607170 | AVSD | Guo et al. (2014) |
ASD, atrial septal defect; VSD, ventricular septal defects; TGA, transposition of the great arteries; TOF, tetralogy of fallot; AVSD, atrioventricular septal defects; PDA, patent ductus arteriosus; TA, tricuspid atresia; AVD, aortic valve disease; LVOTO, left-ventricular outflow tract obstructions.