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

Corinne Stoetzel; Sophie Riehm; Valérie Bennouna Greene; V. Pelletier; Jacqueline Vigneron; Bruno Leheup; Vincent Marion; Sophie Hellé; Jean-Marc Danse; Christelle Thibault; Luc Moulinier; Francis Veillon; Hélène Dollfus

doi:10.1002/ajmg.a.33015

Journal articles

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

Corinne Stoetzel ¹ Sophie Riehm ² Valérie Bennouna Greene ¹ V. Pelletier ³ Jacqueline Vigneron ⁴ Bruno Leheup ⁵ Vincent Marion ¹ Sophie Hellé ¹ Jean-Marc Danse ^{1, 6} Christelle Thibault ⁷ Luc Moulinier ⁷ Francis Veillon ² Hélène Dollfus ^{1, 3}

1 LGM - Laboratoire de Génétique Médicale

2 Département de Radiologie

3 Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale

4 Consultation de Génétique

5 Service de Médecine Infantile III et Génétique Clinique [CHRU Nancy]

6 IGBMC - Institut de génétique et biologie moléculaire et cellulaire

7 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire

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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Submitted on : Friday, December 4, 2009 - 12:03:45 PM
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Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

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

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