Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome

Branchio-oculo-facial syndrome(BOFS) is a rare autosomal dominant disorder characterized by craniofacial, ocular, and ectodermalanomalies. BOFS is caused by mutation of the transcription factor AP2-alpha gene ( TFAP2A). We performed detailed genetic analysisof a Japanese family with clinically suspected BOFS and identified a novel missense mutationresulting in a predicted amino-acid substitution in the highly conserved basic DNA-binding domainof TFAP2A(NM_003220.2:c.699A>C).