Haploinsufficiency of the basic helix–loop–helix transcription factor HAND2 causes congenital heart defects

Congenital heart defects (CHDs) are caused by a disruption in heart morphogenesis, which is dependent, in part, on a network of transcription factors (TFs) that regulate myocardial development. Heterozygous sequence variants in the basic helix–loop–helix TF gene heart and neural crest derivatives expressed 2 ( HAND2) have been reported among some patients with CHDs; however, HAND2 has not yet been established as a Mendelian disease gene. We...