Key result
A SNP in the SCN10A enhancer associated with altered cardiac conduction disrupts TBX3/TBX5 binding and reduces the enhancer's cardiac activity in vivo.
No takes yet. Share an insight, caveat, or question.
Does not support clinical genetic testing for conduction risk; leaves open validation of SCN10A enhancer variants in prospective cohorts.
Boogaard et al. (2012) studied Cardiac conduction perturbations and arrhythmias. SNP in the SCN10A enhancer was evaluated on TBX3/TBX5 binding and cardiac activity of the enhancer in vivo. A SNP in the SCN10A enhancer associated with altered cardiac conduction disrupts TBX3/TBX5 binding and reduces the enhancer's cardiac activity in vivo.
Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context: