P745: Congenital heart disease-associated coding and non-coding mutations alter TBX5-DNA binding affinity

Congenital heart diseases (CHDs) are the most common birth defect, affecting 1 in every 100 infants. CHDs are characterized by structural abnormalities that occur during heart development. Among the possible causes of CHDs are variants that alter cardiac transcription factor (TF) function, such as TBX5. TFs are proteins that bind to specific non-coding regulatory DNA to regulate gene expression and control biological processes. TBX5 is crucial to regulating heart development, and mutations in the TBX5 gene have been shown to cause CHDs.