Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.
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.
Al-Dosari
M S
MS
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Almazyad
M
M
Al-Ebdi
L
L
Mohamed
J Y
JY
Al-Dahmash
Saad
S
Al-Dhibi
Hassan
H
Al-Kahtani
Eman
E
Al-Turkmani
Shahira
S
Alkuraya
Hisham
H
Hall
B D
BD
Alkuraya
F S
FS
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*
C493673:TFAP2A protein, human; D050656:Transcription Factor AP-2
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