TFAP2A and branchiooculofacial syndrome: 50% to 60% of BOFS cases result from the de novo causative variant, while 40% to 50% of cases are inherited from the parents, a proportion consistent with this paper, where 41% of children (7 cases) were found to have first-degree relatives with BOFS, including 1 infant with the same TFAP2A mutation (NM_003220.2:c.699A > C) and clinical presentation as his mother (cases 11 and 12).