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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Published inAmerican journal of medical genetics. Part A Vol. 194; no. 4; pp. e63500 - n/a
Main Authors Stanley, Helen M., White, Brian R., LaRosa, Christopher J., Cocalis, Mark W., Gaynor, J. William, Strong, Alanna, Gangaram, Balram
Format Journal Article
LanguageEnglish
Published Hoboken, USA John Wiley & Sons, Inc 01.04.2024
Wiley Subscription Services, Inc
Subjects
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
aortic coarctation
cardiology
pediatrics
congenital heart defect
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Summary: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.
Bibliography:Alanna Strong and Balram Gangaram contributed equally to this work.
ObjectType-Case Study-2
SourceType-Scholarly Journals-1
content type line 23
ObjectType-Report-1
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.63500