TFAP2A and Branchio-oculo-facial syndrome: For example, transcription factor AP-2 alpha (TFAP2A) lies in 6p24 and has been found to be mutated in patients with branchio-oculo-facial syndrome who present with colobomatous microphthalmia and corneal clouding among other features, suggesting that TFAP2A plays a role in ocular embryogenesis [14,15].