A feasible comprehensive strategy for pinpointing CHD-associated genes based on a small-scale Chinese cohort

Genetic etiologies be considered as the primary cause of congenital heart disease (CHD) and has significantly progressed in the last decade leading by transformative technological development, however, approximately 56% cases of CHD still have unknown causes. Discovering new CHD-related genes supposed to be a valuable approach to solving this dilemma and also can promote our understanding of the mechanisms of CHD. However, the existing large-scale multi-center cohort studies lack of Chinese population and are usually time-consuming and costly. We designed a comprehensive strategy for pinpointing CHD-related genes based on a small-scale Chinese CHD cohort and validated the candidate gene by in vivo functional studies. The strategy provided by this study can accelerate the discovery and mechanistic research progress of CHD-related genes, enrich the CHD-related gene knowledge base, and promote the study of unknown pathogenesis and pathogenic mechanisms of CHD.