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

Helen M. Stanley; Brian R. White; Christopher J. LaRosa; Mark W. Cocalis; J. William Gaynor; Alanna Strong; Balram Gangaram

doi:10.1002/ajmg.a.63500

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

Helen M. Stanley
, Brian R. White
, Christopher J. LaRosa
, Mark W. Cocalis
, J. William Gaynor
, Alanna Strong
, Balram Gangaram

Division of Cardiology, Nemours Children's Hospital Florida

The Children's Hospital of Philadelphia
University of California at San Francisco
Valley Children's Healthcare

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Article number	e63500
Journal	American Journal of Medical Genetics, Part A
Volume	194
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.a.63500
State	Published - Apr 2024

Keywords

aortic coarctation
cardiology
congenital heart defect
pediatrics

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10.1002/ajmg.a.63500

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title = "Patent ductus arteriosus and coarctation of the aorta in association with PRDM6 variants",

abstract = "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.",

keywords = "aortic coarctation, cardiology, congenital heart defect, pediatrics",

author = "Stanley, \{Helen M.\} and White, \{Brian R.\} and LaRosa, \{Christopher J.\} and Cocalis, \{Mark W.\} and Gaynor, \{J. William\} and Alanna Strong and Balram Gangaram",

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year = "2024",

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AU - Stanley, Helen M.

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AU - LaRosa, Christopher J.

AU - Cocalis, Mark W.

AU - Gaynor, J. William

AU - Strong, Alanna

AU - Gangaram, Balram

PY - 2024/4

Y1 - 2024/4

N2 - 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.

AB - 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.

KW - aortic coarctation

KW - cardiology

KW - congenital heart defect

KW - pediatrics

UR - https://www.scopus.com/pages/publications/85178873176

U2 - 10.1002/ajmg.a.63500

DO - 10.1002/ajmg.a.63500

M3 - Article

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AN - SCOPUS:85178873176

SN - 1552-4825

VL - 194

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 4

M1 - e63500

ER -

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

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Keywords

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