C. Stoetzel, S. Riehm, V. Bennouna Greene, and V. Pelletier contributed equally to this work.
Version of Record online: 16 SEP 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 149A, Issue 10, pages 2141–2146, October 2009
How to Cite
Stoetzel, C., Riehm, S., Bennouna Greene, V., Pelletier, V., Vigneron, J., Leheup, B., Marion, V., Hellé, S., Danse, J.M., Thibault, C., Moulinier, L., Veillon, F. and Dollfus, H. (2009), Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. Am. J. Med. Genet., 149A: 2141–2146. doi: 10.1002/ajmg.a.33015
How to cite this article: Stoetzel C, Riehm S, Bennouna Greene V, Pelletier V, Vigneron J, Leheup B, Marion V, Hellé S, Danse JM, Thibault C, Moulinier L, Veillon F, Dollfus H. 2009. Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies. Am J Med Genet Part A 149A:2141–2146.
- Issue online: 24 SEP 2009
- Version of Record online: 16 SEP 2009
- Manuscript Accepted: 15 JUN 2009
- Manuscript Received: 22 DEC 2008
- brachio-oculo-facial syndrome;
- temporal bone anomalies
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. © 2009 Wiley-Liss, Inc.