A novel de novo dominant mutation of <i>NOTCH1</i> gene in an Iranian family with non‐syndromic congenital heart disease

Abstract

Worldwide, mutations in NOTCH1 gene are considered as one of the most known causes of CHD. The found NOTCH1 variant in this family affected individuals was the first report from Iran. Yet again, this result indicates the importance of NOTCH1 screening in CHD patients.