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

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 man...

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Autores principales: Al-Dosari, M.S., Almazyad, M., Al-Ebdi, L., Mohamed, J.Y., Al-Dahmash, Saad, Al-Dhibi, Hassan, Al-Kahtani, Eman, Al-Turkmani, Shahira, Alkuraya, Hisham, Hall, B.D., Alkuraya, F.S.
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2866573/
https://www.ncbi.nlm.nih.gov/pubmed/20461149
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author Al-Dosari, M.S.
Almazyad, M.
Al-Ebdi, L.
Mohamed, J.Y.
Al-Dahmash, Saad
Al-Dhibi, Hassan
Al-Kahtani, Eman
Al-Turkmani, Shahira
Alkuraya, Hisham
Hall, B.D.
Alkuraya, F.S.
author_facet Al-Dosari, M.S.
Almazyad, M.
Al-Ebdi, L.
Mohamed, J.Y.
Al-Dahmash, Saad
Al-Dhibi, Hassan
Al-Kahtani, Eman
Al-Turkmani, Shahira
Alkuraya, Hisham
Hall, B.D.
Alkuraya, F.S.
author_sort Al-Dosari, M.S.
collection PubMed
description 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.
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spelling pubmed-28665732010-05-11 Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature Al-Dosari, M.S. Almazyad, M. Al-Ebdi, L. Mohamed, J.Y. Al-Dahmash, Saad Al-Dhibi, Hassan Al-Kahtani, Eman Al-Turkmani, Shahira Alkuraya, Hisham Hall, B.D. Alkuraya, F.S. Mol Vis Research Article 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. Molecular Vision 2010-05-08 /pmc/articles/PMC2866573/ /pubmed/20461149 Text en Copyright © 2010 Molecular Vision. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Al-Dosari, M.S.
Almazyad, M.
Al-Ebdi, L.
Mohamed, J.Y.
Al-Dahmash, Saad
Al-Dhibi, Hassan
Al-Kahtani, Eman
Al-Turkmani, Shahira
Alkuraya, Hisham
Hall, B.D.
Alkuraya, F.S.
Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature
title Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature
title_full Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature
title_fullStr Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature
title_full_unstemmed Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature
title_short Ocular manifestations of branchio-oculo-facial syndrome: Report of a novel mutation and review of the literature
title_sort ocular manifestations of branchio-oculo-facial syndrome: report of a novel mutation and review of the literature
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2866573/
https://www.ncbi.nlm.nih.gov/pubmed/20461149
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