TFAP2A gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: transcription factor AP2 alpha
  • Regulates other genes by binding to specific DNA regions (transcription factor)
  • Regulates expression of genes controlling cell division and apoptosis
  • Important in embryogenesis, including neural crest and lens development
Clinical phenotype
(OMIM phenotype no.)
  • Branchiooculofacial syndrome (#113620)
  • Autosomal dominant
Ocular features
Systemic featuresMain features:
  • Branchial (cervical, infra-/supra-auricular) skin defects
  • Dysmorphic facial appearance (upslanted palpebral fissues, hypertelorism/telecanthus, broad nasal tip, upper lip pits, lower facial weakness)
  • Cleft lip/prominent philtral pillars (appearing like a repaired cleft lip) +/- cleft palate
Additional features:
  • Ear (sensorineural and/or conductive hearing loss, inner ear and petrous bone anomalies, malformed pinnae)
  • Ectopic thymus
  • Renal (agenesis, cysts, hydronephrosis)
  • Dental anomalies
  • Dysplastic nails
  • Premature graying of hair in adults
  • Subcutaneous dermoid-like cysts (typically on the scalp)
  • Usually normal psychomotor development
Key investigations
  • B-scan USS to measure axial length to document microphthalmia
  • Electrophysiology
  • MRI brain and orbit
  • Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (MAC)
  • Whole genome sequencing
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

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  1.  Bragança J, Eloranta JJ, Bamforth SD, Ibbitt JC, Hurst HC, Bhattacharya S. Physical and functional interactions among AP-2 transcription factors, p300/CREB-binding protein, and CITED2. J Biol Chem. 2003;278(18):16021‐16029
  2.  Lee WK, Root AW, Fenske N. Bilateral branchial cleft sinuses associated with intrauterine and postnatal growth retardation, premature aging, and unusual facial appearance: a new syndrome with dominant transmission. Am J Med Genet. 1982;11(3):345‐352
  3.  Mazzone D, Milana A, Carpinato C. Branchio-oculo-facial syndrome. Report of a new case with agenesis of cerebellar vermis. Eur J Pediatr. 1992;151(4):312
  4.  Tekin M, Sirmaci A, Yüksel-Konuk B, Fitoz S, Sennaroğlu L. A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child. Am J Med Genet A. 2009;149A(3):427‐430
  5.  Lin AE, Haldeman-Englert CR, Milunsky JM. Branchiooculofacial Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993

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Updated on November 30, 2020

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