Get access

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

Authors

  • C. Stoetzel,

    1. Laboratoire de Génétique Médicale EA 3949, Equipe Avenir-Inserm, Faculté de Médecine de Strasbourg, Université de Strasbourg, Strasbourg, France
    Search for more papers by this author
  • S. Riehm,

    1. Département de Radiologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
    Search for more papers by this author
  • V. Bennouna Greene,

    1. Laboratoire de Génétique Médicale EA 3949, Equipe Avenir-Inserm, Faculté de Médecine de Strasbourg, Université de Strasbourg, Strasbourg, France
    Search for more papers by this author
  • V. Pelletier,

    1. Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
    Search for more papers by this author
  • J. Vigneron,

    1. Consultation de Génétique, Maternité Régionale ‘A. Pinard’, CHU Nancy, Nancy, France
    Search for more papers by this author
  • B. Leheup,

    1. Service de Médecine Infantile III et Génétique Clinique, CHU Nancy, Nancy, France
    Search for more papers by this author
  • V. Marion,

    1. Laboratoire de Génétique Médicale EA 3949, Equipe Avenir-Inserm, Faculté de Médecine de Strasbourg, Université de Strasbourg, Strasbourg, France
    Search for more papers by this author
  • S. Hellé,

    1. Laboratoire de Génétique Médicale EA 3949, Equipe Avenir-Inserm, Faculté de Médecine de Strasbourg, Université de Strasbourg, Strasbourg, France
    Search for more papers by this author
  • J.M. Danse,

    1. Laboratoire de Génétique Médicale EA 3949, Equipe Avenir-Inserm, Faculté de Médecine de Strasbourg, Université de Strasbourg, Strasbourg, France
    Search for more papers by this author
  • C. Thibault,

    1. Institut de Génétique et Biologie Moléculaire et Cellulaire, Illkirch-Graffenstaden, France
    Search for more papers by this author
  • L. Moulinier,

    1. Institut de Génétique et Biologie Moléculaire et Cellulaire, Illkirch-Graffenstaden, France
    Search for more papers by this author
  • F. Veillon,

    1. Département de Radiologie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
    Search for more papers by this author
  • H. Dollfus

    Corresponding author
    1. Laboratoire de Génétique Médicale EA 3949, Equipe Avenir-Inserm, Faculté de Médecine de Strasbourg, Université de Strasbourg, Strasbourg, France
    2. Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France
    • Laboratoire de Génétique Médicale EA 3949, Université de Strasbourg, 11 rue Humann, Strasbourg 67085 Cedex, France.
    Search for more papers by this author

  • C. Stoetzel, S. Riehm, V. Bennouna Greene, and V. Pelletier contributed equally to this work.

  • 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.

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. © 2009 Wiley-Liss, Inc.

Get access to the full text of this article

Ancillary