Which gene is commonly associated with Brugada syndrome?

Brugada syndrome is a genetic condition that is characterized by an abnormal electrocardiogram (ECG) and an increased risk of sudden cardiac arrest due to ventricular arrhythmias. The gene most commonly associated with Brugada syndrome is SCN5A.

SCN5A encodes a sodium channel protein that plays a crucial role in the electrical activity of the heart. Mutations in this gene can lead to dysfunction in sodium ion conductance, which in turn affects cardiac excitability and can result in the characteristic arrhythmias seen in Brugada syndrome.

The other genes mentioned are associated with different conditions. For example, ACTA2 is related to smooth muscle disorders, FBN1 mutations are linked to Marfan syndrome, and COL3A1 is associated with Ehlers-Danlos syndrome. Their associations with different phenotypes are distinct from the cardiac implications of SCN5A mutations in Brugada syndrome, hence reinforcing why SCN5A is recognized as the key gene connected to this particular condition.