In humans, TFAP2A is mutated in branchio-oculo-facial syndrome (BOFS) and regulates, or is regulated by, additional genes associated with orofacial clefting, including Irf6, BCOR and p63 (Fan et al., 2009; Ferretti et al., 2011; Gritli-Linde, 2010; Li et al., 2013a; Milunsky et al., 2008; Rahimov et al., 2008; Stoetzel et al., 2009; Thomason et al., 2010; Wang et al., 2013). This evidence concerns the gene IRF6 and Branchio-oculo-facial syndrome.