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Case Reports
. 2023 Dec;191(12):2903-2907.
doi: 10.1002/ajmg.a.63387. Epub 2023 Sep 4.

Are CUL3 variants an underreported cause of congenital heart disease?

Daniela Di Francesco  1 , Anne Swenerton  2   3 , Wenhui Laura Li  4 , Christopher Dunham  5 , Glenda Hendson  5 , Cornelius F Boerkoel  2   3
Affiliations
Case Reports

Are CUL3 variants an underreported cause of congenital heart disease?

Daniela Di Francesco et al. Am J Med Genet A. 2023 Dec.

Abstract

Complex heart defects (CHD) are a common malformation associated with disruption of developmental pathways. The Cullin-RING ligases (CRLs) are multi-subunit E3 ubiquitin ligases in which Cullin 3 (CUL3) serves as a scaffolding subunit. Heterozygous CUL3 variants have been associated with neurodevelopmental disorders and pseudohypoaldosteronism type IIE. We report a fetus with CHD and a de novo CUL3 variant (NM_003590.4:c.[1549_1552del];[=], p.(Ser517Profs*23)) and review CUL3 variants reported with CHD. We postulate that CUL3 variants predispose to CHD and hypothesize mechanisms of pathogenesis.

Keywords: CUL3; congenital heart disease.

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References

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