Tekin et al. identified a heterozygous deletion/insertion mutation in the TFAP2A gene in a 4-year-old Turkish girl with Branchiooculofacial syndrome which is characterized by branchial cleft sinus defects, ocular anomalies such as microphthalmia and lacrimal duct obstruction, and a dysmorphic facial appearance (including cleft or pseudocleft lip/palate). The gene discussed is TFAP2A; the disease is Branchio-oculo-facial syndrome.