Noncoding Variants in a TBX1 Enhancer Disrupt Early Vascular Development in Tetralogy of Fallot (IMAGE)

Science China Press

Noncoding Variants in a TBX1 Enhancer Disrupt Early Vascular Development in Tetralogy of Fallot

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Whole-genome sequencing identified 22q11.2 deletions involving TBX1 and functional noncoding variants in the TBX1 enhancer among patients with tetralogy of Fallot. Blood vessel organoid experiments showed that enhancer disruption reduces TBX1 expression, impairs angiogenesis, decreases pericyte coverage, and alters tight junction formation, suggesting a mechanism for outflow tract vessel dysfunction.

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