Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants

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 w...

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Veröffentlicht in:	American journal of medical genetics. Part A 2024-04, Vol.194 (4), p.e63500-n/a
Hauptverfasser:	Stanley, Helen M., White, Brian R., LaRosa, Christopher J., Cocalis, Mark W., Gaynor, J. William, Strong, Alanna, Gangaram, Balram
Format:	Artikel
Sprache:	eng
Schlagworte:	Aorta aortic coarctation Aortic Coarctation - genetics cardiology Congenital diseases congenital heart defect Coronary vessels Ductus Arteriosus, Patent - diagnosis Ductus Arteriosus, Patent - genetics Heart Defects, Congenital - diagnosis Heart Defects, Congenital - genetics Humans pediatrics Transcription Factors - genetics
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Zusammenfassung:	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.
ISSN:	1552-4825 1552-4833 1552-4833
DOI:	10.1002/ajmg.a.63500