In patients with branchiooculofacial syndrome, an 89Mb inversion was found with a breakpoint located in the TAD, which disconnects the TFAP2A gene from enhancers such as Enh100 and Enh105, leading to haploinsufficient expression of TFAP2A in human neural crest cells.315. This evidence concerns the gene TFAP2A and branchiooculofacial syndrome.