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Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

Abstract : 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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https://www.hal.inserm.fr/inserm-00438668
Contributor : Maité Peney <>
Submitted on : Friday, December 4, 2009 - 12:03:45 PM
Last modification on : Thursday, May 28, 2020 - 3:32:02 PM

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Corinne Stoetzel, Sophie Riehm, Valérie Bennouna Greene, V. Pelletier, Jacqueline Vigneron, et al.. Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.. American Journal of Medical Genetics Part A, Wiley, 2009, 149A (10), pp.2141-6. ⟨10.1002/ajmg.a.33015⟩. ⟨inserm-00438668⟩

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