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Updated: Jul 17, 2025

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
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Are CUL3 variants an underreported cause of congenital heart disease?

Daniela Di Francesco1, Anne Swenerton2,3, Wenhui Laura Li4

  • 1MD Undergraduate Program, University of British Columbia, Vancouver, British Columbia, Canada.

American Journal of Medical Genetics. Part A
|September 4, 2023
PubMed

Insights

New research links Cullin 3 (CUL3) gene variants to complex heart defects (CHD). A fetus with CHD and a novel CUL3 variant highlights the gene's role in heart development, suggesting potential pathogenic mechanisms.

Area of Science:

  • Genetics
  • Developmental Biology
  • Cardiology

Background:

  • Complex heart defects (CHD) are common congenital malformations arising from disrupted developmental pathways.
  • Cullin-RING ligases (CRLs) are crucial E3 ubiquitin ligases, with Cullin 3 (CUL3) acting as a key scaffold.
  • Heterozygous CUL3 variants are previously linked to neurodevelopmental disorders and pseudohypoaldosteronism type IIE.

Keywords:
CUL3congenital heart disease

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