Case Report: A heterozygous loss-of-function variant of the ERG gene in a family with vascular pathologies

BackgroundThe transcription factor ERG (erythroblast transformation-specific-related gene) has been identified as a key regulator of vascular function by suppressing inflammation in endothelial cells (ECs). Dysregulation of ERG due to genetic risk variants is linked to chronic inflammation in condit...

Full description

Bibliographic Details

Published in:	Frontiers in Cardiovascular Medicine
Main Authors:	Philipp Erhart, Nicola Dikow, Eva M. C. Schwaibold, Susanne Dihlmann, Caspar Grond-Ginsbach, Daniel Körfer, Christian P. Schaaf, Sabrina Oeser, Katrin Hinderhofer, Dittmar Böckler, Jiarna R. Zerella, Hamish S. Scott, Christopher N. Hahn, Felix Marbach
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2025-06-01
Subjects:	multiple arterial aneurysms ERG abdominal aortic aneurysm loss-of-function variant haploinsufficiency
Online Access:	https://www.frontiersin.org/articles/10.3389/fcvm.2025.1550523/full