SOX4 and Coffin-Siris syndrome: In humans, SOX4 mutations have been associated with Coffin–Siris syndrome (CSS), and approximately 50% of patients carrying pathogenic SOX4 variations have congenital cardiovascular deformities, particularly VSD [51,54]; this indicates that human SOX4 plays a key role in proper cardiovascular development, justifying SOX4 as a preferable candidate gene for CHD in humans.