[No authors listed]
Genetic variation in specific transcription factors during heart formation may lead to congenital heart disease (CHD) or even miscarriage. The aim of the present study was to identify CHDâassociated genes using next generation sequencing (NGS). The whole exome DNA sequence was obtained from a stillborn fetus diagnosed with tricuspid atresia and complete transposition of the great arteries using highâthroughput sequencing methods. Subsequently, genetic variants of CHDâassociated genes were selected and verified in 215 nonâsyndromic CHD patients and 249 healthy control subjects using polymerase chain reaction combined with Sanger sequencing. Genetic variants of previously reported CHDâinducing genes, such as cysteine rich with EGF like domains 1 and cbp/p300âinteracting transactivator with Glu/Asp rich carboxyâterminal domain 2, were discovered through the NGS analysis. In addition, a novel nonâsynonymous mutation of the iroquois homeobox 1 (IRX1) gene (p.Gln240Glu) was identified. A total of three nonâsynonymous mutations (p.Gln240Glu, p.Ser298Asn and p.Ala381Glu) of the IRX1 gene were verified in 215 nonâsyndromic CHD patients, but not in 249 healthy volunteers. The results demonstrated that NGS is a powerful tool to study the etiology of CHD. In addition, the results suggest that genetic variants of the IRX1 gene may contribute to the pathogenesis of CHD.
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