<i>GATA4</i> screening in Iranian patients of various ethnicities affected with congenital heart disease: Co‐occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous <i>GATA4</i> mutation in a family with autosomal dominant congenital heart disease

Abstract

From screening GATA4 sequence in 66 Iranian patients of various ethnicities, we conclude that cytogenetic analysis and PCR-direct sequencing of different candidate genes may not be the best approach for genetic diagnosis in CHD. Applying novel approaches such as next-generation sequencing (NGS) may provide a better understating of genetic contributing factors in CHD patients for whom conventional methods could not reveal any genetic causative factor.