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Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.

ABSTRACT: PURPOSE: 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.

SUBMITTER: Al-Dosari MS

PROVIDER: S-EPMC2866573 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

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Ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature.

Al-Dosari M S MS 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

Molecular vision 20100508

<h4>Purpose</h4>To report unusual ocular manifestations of branchio-oculo-facial syndrome (BOFS) caused by a novel mutation in activating enhancer binding protein 2 alpha (TFAP2A).<h4>Methods</h4>Full ophthalmological evaluation and direct sequencing of TFAP2A.<h4>Results</h4>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.<h4>Conclusions</h4>This report expands the ocular phenotypic spectrum o ...[more]

PMID: 20461149

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