Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
Lisa C A D'AlessandroSaeed Al TurkiAshok Kumar ManickarajDorin ManaseBarbara J M MulderLynn BerginHerschel C RosenbergTapas MondalElaine GordonJane LougheedJohn SmytheKoen DevriendtShoumo BhattacharyaHugh WatkinsJamie BenthamSarah BowdinMatthew E HurlesSeema MitalPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)
Mutations in genes with strong biological relevance to AVSD, including syndrome-associated genes, can contribute to AVSD, even in those with isolated heart disease. The identification of a gene set associated with AVSD will facilitate targeted genetic screening in this cohort.