Patent ductus arteriosus and coarctation of the aorta in association with <scp><i>PRDM6</i></scp> variants-Reference-Cited by-同舟云学术

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

Published:2023-12-09 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Stanley Helen M.¹^ORCID,White Brian R.¹^ORCID,LaRosa Christopher J.²,Cocalis Mark W.³,Gaynor J. William⁴^ORCID,Strong Alanna⁵^ORCID,Gangaram Balram⁶⁷^ORCID

Affiliation:

1. Division of Cardiology, Department of Pediatrics Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania USA

2. Division of Nephrology, Department of Pediatrics Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania USA

3. Division of Pediatric Cardiology University of California San Francisco San Francisco California USA

4. Division of Cardiothoracic Surgery Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania USA

5. Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia and the Perelman School of Medicine, University of Pennsylvania Philadelphia Pennsylvania USA

6. Division of Medical Genetics, Department of Pediatrics University of California San Francisco California USA

7. Division of Genetics and Metabolism Valley Children's Healthcare Madera California USA

Abstract

AbstractPatent 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.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63500

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