Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants.
Helen M StanleyBrian R WhiteChristopher J LaRosaMark W CocalisJ William GaynorAlanna StrongBalram GangaramPublished in: American journal of medical genetics. Part A (2023)
Patent ductus arteriosus (PDA) and coarctation of the aorta (CoA) are relatively common congenital heart defects. Pathogenic variants in PRDM6, which encodes a smooth-muscle-cell-specific transcription factor, have now been etiologically associated with non-syndromic PDA. We present three patients with PDA and CoA found to harbor PRDM6 variants, including a novel, likely-pathogenic variant.