| Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. | |
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MedLine Citation:
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PMID: 19764023 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Branchio-oculo-facial syndrome (BOFS) is an autosomal-dominant condition characterized by three main features, respectively: branchial defects, ocular anomalies, and craniofacial defects including cleft lip and/or palate (CL/P). We report on one family with three affected, and two sporadic cases that have been found to carry missense mutations in the newly reported BOFS gene: TFAP2A. This report confirms the involvement of this transcription factor in this developmental syndrome with clinical variability. Moreover, we present CT scan temporal bone anomalies in the familial cases, related to branchial arch defects, highlighting the importance of radiological investigations for differential diagnosis. |
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Authors:
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C Stoetzel; S Riehm; V Bennouna Greene; V Pelletier; J Vigneron; B Leheup; V Marion; S Hell??; J M Danse; C Thibault; L Moulinier; F Veillon; H Dollfus |
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Publication Detail:
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Type: Case Reports; Journal Article; Validation Studies |
Journal Detail:
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Title: American journal of medical genetics. Part A Volume: 149A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2009 Oct |
Date Detail:
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Created Date: 2009-10-01 Completed Date: 2009-12-17 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
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Languages: eng Pagination: 2141-6 Citation Subset: IM |
Affiliation:
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Laboratoire de G??n??tique M??dicale EA 3949, Equipe Avenir-Inserm, Facult?? de M??decine de Strasbourg, Universit?? de Strasbourg, Strasbourg, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Amino Acid Sequence Base Sequence Branchio-Oto-Renal Syndrome / complications, genetics* Child DNA Mutational Analysis Female Humans Male Molecular Sequence Data Pedigree Temporal Bone / abnormalities* Transcription Factor AP-2 / genetics*, physiology |
| Chemical | |
Reg. No./Substance:
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0/TFAP2A protein, human; 0/Transcription Factor AP-2 |
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