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Clinical Presentation and the Presence of Hearing Impairment in Branchio-Oculo-Facial Syndrome: A New Mutation in the TFAP2A Gene

Thomeer, H. G. X. M., Crins, T. T. H., Kamsteeg, E. J., Buijsman, W., Cruysberg, J. R. M., Knoers, N. V. A. M. & Cremers, C. W. R. J., Dec-2010, In : Annals of Otology, Rhinology and Laryngology. 119, 12, p. 806-814 9 p.

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  • Clinical Presentation and the Presence of Hearing Impairment in Branchio-Oculo-Facial Syndrome

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DOI

  • Henricus G X M Thomeer
  • Tom T H Crins
  • Erik J Kamsteeg
  • Wendy Buijsman
  • Johannes R M Cruysberg
  • Nine V A M Knoers
  • Cor W R J Cremers

We report on the clinical presentation of branchio-oculo-facial (BOF) syndrome in 2 patients with mutations in the TFAP2A gene (OMIM 107580). This TFAP2A gene was recently shown to be involved in the causation of BOF syndrome. An overview of the literature on BOF syndrome is given based on clinical reports written in the period during which mutation analysis was not yet available for BOF syndrome. We also give descriptions of the mutations in the TFAP2A gene in our 2 new patients with BOF syndrome. Congenital conductive hearing impairments are described, including hearing rehabilitation and the results of ear surgery.

Original languageEnglish
Pages (from-to)806-814
Number of pages9
JournalAnnals of Otology, Rhinology and Laryngology
Volume119
Issue number12
Publication statusPublished - Dec-2010
Externally publishedYes

    Keywords

  • Adolescent, Branchio-Oto-Renal Syndrome/complications, Child, Ear, External/abnormalities, Female, Hearing Loss, Conductive/complications, Humans, Male, Mutation, Sequence Analysis, DNA, Transcription Factor AP-2/genetics

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