A recent study identified GATA4 and MYH6 as the potential risk genes responsible for septal defects in congenital heart disease. The results of this study were published in the journal, Gene.
A comprehensive literature search was done to identify the high-risk genes involved in common septal defects, such as atrial septal defect (ASD), ventricular septal defect (VSD), and atrioventricular septal defect (AVSD). The high-risk genes identified in the analysis were validated in silico in 16 Indian whole-exome sequenced samples, including 13 VSD and three Tetralogy of Fallot. The data revealed three variations in GATA4, i.e., c.C1223A at exon 6: c.C602A and c.C1220A at exon 7; and one variation in MYH6, i.e., c.G3883C at exon 28 in two VSD cases.
Thus, this study contributes to a better understanding of the genes involved in heart development by identifying the high-risk genes and interacting proteins in the pathway.
Chaithra, S., Agarwala, S., & Ramachandra, N. B. (2022). High-risk genes involved in common septal defects of congenital heart disease. Gene, 840, 146745. https://www.sciencedirect.com/science/article/pii/S0378111922005649