Identification of Novel Single-Nucleotide Variants With Potential of Mediating Malfunction of MicroRNA in Congenital Heart Disease

Congenital heart defects (CHDs) represent the most common human birth defects. Our previous study indicates that malfunction of microRNAs (miRNAs) in cardiac neural crest cells (NCCs), which contribute to development and connected great vessels, is likely linked pathogenesis CHDs. In this study, we attempt further search for causative single-nucleotide variants (SNVs) from CHD patients mediate mis-regulating miRNAs on their downstream target genes As a result, total 2,925 3′UTR SNVs were detected cohort. parallel, profiled expression NCCs found 201 expressed miRNAs. A combined analysis with these data identified three SNVs, including NFATC1 c. * 654C>T, FGFRL1 414C>T, CTNNB1 729_ 730insT, result miRNA-mediated gene regulation. The dysregulations validated experimentally. Therefore, our dysregulation could be an important etiology congenital disease, lead new direction diagnostic therapeutic investigation disease.