whole-exome sequencing analysis of laterality defects patients with congenital heart disease
Description
Laterality defects can lead to a variety of congenital diseases, but the etiology of these defects in many patients is still unknown. Many studies have shown that using WES is an efficient strategy to identify pathologic variations of genes related to disease. To explore the role of genetic variation in laterality defects, we performed WES on 70 unrelated patients and 100 healthy individuals. Then we evaluated rare, loss-of-function (LOF) variants, identifying TRIP11, DNHD1, CFAP74, and EGR4 as candidates. And we performed function researches on these candidate genes to verify their function in the development of LR asymmetry.