title: Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.
abstract: OBJECTIVE
  To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).
  
  
  METHODS
  Full ophthalmological evaluation and direct sequencing of TFAP2A.
  
  
  RESULTS
  A 10-year-old girl with unusual ocular manifestations of BOFS such as elliptical shaped microcornea and a novel de novo TFAP2A mutation was identified.
  
  
  CONCLUSIONS
  This report expands the ocular phenotypic spectrum of BOFS and adds to the small number of reported TFAP2A mutations.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: M S
authors.initials: MS
authors.lastname: Al-Dosari
authors.forename: M
authors.initials: M
authors.lastname: Almazyad
authors.forename: L
authors.initials: L
authors.lastname: Al-Ebdi
authors.forename: J Y
authors.initials: JY
authors.lastname: Mohamed
authors.forename: Saad
authors.initials: S
authors.lastname: Al-Dahmash
authors.forename: Hassan
authors.initials: H
authors.lastname: Al-Dhibi
authors.forename: Eman
authors.initials: E
authors.lastname: Al-Kahtani
authors.forename: Shahira
authors.initials: S
authors.lastname: Al-Turkmani
authors.forename: Hisham
authors.initials: H
authors.lastname: Alkuraya
authors.forename: B D
authors.initials: BD
authors.lastname: Hall
authors.forename: F S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D019280:Branchio-Oto-Renal Syndrome / Q000150:complications* / Q000235:genetics*; D002386:Cataract / Q000150:complications*; D002648:Child; D003103:Coloboma / Q000150:complications*; D003315:Cornea / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000150:complications; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010641:Phenotype; D050656:Transcription Factor AP-2 / Q000235:genetics*
chemical_list: C493673:TFAP2A protein, human; D050656:Transcription Factor AP-2
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