Most TCs are characterized by dysregulations involving the mitogen-activated protein kinase (MAPK) and phosphatidylinositol-3 kinase/mammalian target of rapamycin/protein-kinase B (PI3K/mTOR/Akt) signaling pathways that are crucial in the regulation of cellular proliferation [24,25]. The gene discussed is AKT1; the disease is Treacher-Collins syndrome.