Question

What is/are the phenotypes when the GATA6 gene is mutated at the molecular level? What process is interfered with?

Answer 1

Solution

• GATA6, a gene encoding a zinc-finger transcription factor crucial for normal cardiogenesis.
• This defects can be identified by
• 12-lead electrocardiogram (ECG), and two-dimensional transthoracic echocardiography with color-flow Doppler.

Defects phenotypes-

1. right ventricular outflow tract obstruction,
2. over-riding of the aortic root,
3. ventricular septal defect,
4. right ventricular hypertrophy
5. ventricular septal defect,
6. atrial septal defect,
7. tetralogy of Fallot,
8. double-outlet right ventricle,
9. atrioventricular septal defect,
10. aortic stenosis,
11. transposition of great arteries, and patent ductus arteriosus,
12. leading to cardiac enlargement,
13. ventricular dysfunction or heart failure,
14. pulmonary hypertension, Eisenmenger's syndrome,
15. delayed fetal brain development,
16. arrhythmias,