title: A family with branchio-oculo-facial syndrome with primarily ocular involvement associated with mutation of the TFAP2A gene.
abstract: BACKGROUND
  Branchio-Oculo-Facial syndrome (BOFS) is a rare, autosomal dominant developmental disorder that has a distinct phenotype with characteristic craniofacial abnormalities. We report a family with extensive ocular manifestations of BOFS caused by a novel mutation in the transcription factor AP-2 alpha (TFAP2A) gene.
  
  
  METHODS
  Case report of phenotypic and genotypic characterization of a family with BOFS.
  
  
  RESULTS
  An infant presenting with anophththalmia/coloboma and subtle craniofacial symptoms was found to have a family history of congenital cataracts and colobomas in her mother. A mutation in the TFAP2A gene associated with BOFS (heterozygous H384Y in exon 7) was found in both the proband and her mother. This mutation had not been reported previously. Compared with other molecularly confirmed cases in the literature, this family has primarily ocular features, which are severe.
  
  
  CONCLUSIONS
  BOFS can have profound ocular involvement without prominent extraocular features. When the syndrome presents in this way, it may be confused with isolated autosomal dominant chorioretinal coloboma. Testing for mutations in the TFAP2A gene is recommended to establish an accurate diagnosis for the family.
authors.affiliation: Pediatric Ophthalmology, Department of Ophthalmology and Visual Science, University of Iowa Hospital and Clinics, Iowa City, IA 52246, USA.
authors.forename: Alina V
authors.initials: AV
authors.lastname: Dumitrescu
authors.forename: Jeff M
authors.initials: JM
authors.lastname: Milunsky
authors.forename: Susannah Q
authors.initials: SQ
authors.lastname: Longmuir
authors.forename: Arlene V
authors.initials: AV
authors.lastname: Drack
mesh_terms: D000328:Adult; D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis / Q000235:genetics*; D002386:Cataract / Q000151:congenital* / Q000175:diagnosis; D003103:Coloboma / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012160:Retina / Q000002:abnormalities* / Q000473:pathology; D050656:Transcription Factor AP-2 / Q000235:genetics*
chemical_list: C493673:TFAP2A protein, human; D050656:Transcription Factor AP-2