| FOXD1 Duplication Causes Branchial Defects and Interacts with the TFAP2A Gene Implicated in the Branchio-Oculo-Facial Syndrome in Causing Eye Effects in Zebrafish. | |
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MedLine Citation:
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PMID: 22140378 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Branchio-oculo-facial syndrome (BOFS) is a rare disorder characterized by maldevelopment of the first and second branchial arches, skin defects, facial dysmorphism, auricular, ophthalmological and oral abnormalities. A high clinical variability has been reported. Recently, mutations in TFAP2A were found to underlie this condition. A small duplication on 5q13 was detected in 2 family members with mild BOFS features. Molecular cytogenetic delineation of the duplication demonstrated that only 7 genes are affected: LOC100289045, RGNEF, UTP15, ANKRA2, FUNDC2P1, BTF3 and FOXD1. The latter is expressed in the developing branchial arches and involved in cranio-facial development. Zebrafish embryos with combined inhibition of the expression of foxd1l and tfap2a show optic axis defects. We identified a novel locus associated with a mild BOFS-like phenotype. The functional in vivo experiments suggest an interaction between FOXD1 and TFAP2A. |
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Authors:
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I Balikova; K Devriendt; J-P Fryns; J R Vermeesch |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-5-18 |
Journal Detail:
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Title: Molecular syndromology Volume: 1 ISSN: 1661-8777 ISO Abbreviation: - Publication Date: 2010 |
Date Detail:
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Created Date: 2011-12-5 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101525192 Medline TA: Mol Syndromol Country: - |
Other Details:
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Languages: ENG Pagination: 255-261 Citation Subset: - |
Affiliation:
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Center for Human Genetics, Catholic University Leuven, Leuven, Belgium. |
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