The disease is genetically inherited and stems from a mutation that deletes the TFAP2A gene. This gene is important because it provides the blueprint for the arrangement of 437 amino acids that make up the protein transcription factor known as AP-2 alpha. This protein transcription factor binds to a carboxy terminus helix-span-helix motif and an amino terminus portion of DNA that affects the activity of numerous cellular activities such as cell division and apoptosis. AP-2 alpha is especially important during the embryos development principally in the development of the<unk> l arches. Currently there are also four other proteins that are affected by the deletion of TFAP2A gene as well. One is L249P, this protein changes to cause a conformational space change with a substituted proline. Furthermore, a change in the R254W and R255G proteins results in a replacement of a charged polar side chain by a nonpolar side chain, and lastly, an alteration in the G262E protein results in a nonpolar side chain being replaced by a charged polar side chain.
Branchio-oculo-facial syndrome
Otofacial syndrome
Malpuech facial clefting syndrome
Urofacial syndrome
Laryngo-onycho-cutaneous syndrome
Long face syndrome
Skoptic syndrome
Tolosa–Hunt syndrome