Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies

Am J Med Genet A. 2009 Oct;149A(10):2141-6. doi: 10.1002/ajmg.a.33015.


Branchio-oculo-facial syndrome (BOFS) is an autosomal-dominant condition characterized by three main features, respectively: branchial defects, ocular anomalies, and craniofacial defects including cleft lip and/or palate (CL/P). We report on one family with three affected, and two sporadic cases that have been found to carry missense mutations in the newly reported BOFS gene: TFAP2A. This report confirms the involvement of this transcription factor in this developmental syndrome with clinical variability. Moreover, we present CT scan temporal bone anomalies in the familial cases, related to branchial arch defects, highlighting the importance of radiological investigations for differential diagnosis.

Publication types

  • Case Reports
  • Validation Study

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Branchio-Oto-Renal Syndrome / complications
  • Branchio-Oto-Renal Syndrome / genetics*
  • Child
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Temporal Bone / abnormalities*
  • Transcription Factor AP-2 / genetics*
  • Transcription Factor AP-2 / physiology


  • TFAP2A protein, human
  • Transcription Factor AP-2