Genetic modifiers of congenital heart disease in 22q11.2 deletion syndrome

NARRATIVE This project will take human and animal model genetic approaches to understand the basis of phenotypic variability of congenital heart disease among 22q11.2 deletion syndrome patients. We will analyze whole genome sequence from subjects with 22q11.2 deletion syndrome with/out congenital heart defects and validate discoveries in mouse and zebrafish models. Some of the genes studied may also be risk factors for sporadic congenital heart disease in the general population.