Common arterial trunk associated with a homeodomain mutation of NKX2.6

Abstract excerpt

Persistent truncus arteriosus (PTA) is a failure of septation of the cardiac outflow tract (OFT) into the pulmonary artery and the aorta. A common arterial trunk (CAT) is often diagnosed as PTA in the absence of evidence of embryological mechanism. We have used autozygosity mapping of a large consanguineous family segregating CAT to map the causative locus to chromosome 8p21. An F151L mutation was identified in...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Congenital heart defects research
• Share to Congenital Heart Disease Studies
• Share to Developmental Biology and Gene Regulation