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This research investigates genetic variants in the proximal promoter of the ACTC1 gene and their role in atrial septal defects (ASD).

June 7, 2026iCirculationOpen Access

Genetic Variants with Cellular Dysfunction and Pathogenic Significance of ACTC1 Gene Proximal Promoter in 634 Patients with Atrial Septal Defects and Controls

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Case-control study finds ACTC1 gene variants impair transcriptional activity in ASD patients, suggesting genetic underpinnings.

This research investigates genetic variants in the proximal promoter of the ACTC1 gene and their role in atrial septal defects (ASD).
Case-control design with 634 subjects (316 ASD patients and 318 controls)
Genomic DNA extraction and sequencing of ACTC1 proximal promoter
Functional assays including dual-luciferase and electrophoretic mobility shift assays (EMSAs)
Identified 11 variants in the proximal promoter, with 6 unique to ASD patients including a novel variant (g.5083G>A)
All 6 variants resulted in significantly reduced transcriptional activity (p < 0.05)
Variants disrupt transcription factor binding sites, affecting ACTC1 gene regulation

Chen et al. (2026) studied this question.

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