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Gene Mutations in Primary Ciliary Dyskinesia Related to Otitis Media

  • OTITIS (DP SKONER, SECTION EDITOR)
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Abstract

Otitis media with effusion (OME) is the most common cause of conductive hearing loss in children and is strongly associated with primary ciliary dyskinesia (PCD). Approximately half of the children with PCD require otolaryngology care, posing a major problem in this population. Early diagnosis of PCD is critical in these patients to minimise the collateral damage related to OME. The current gold standard for PCD diagnosis requires determining ciliary structure defects by transmission electron microscopy (TEM) or clearly documenting ciliary dysfunction via digital high-speed video microscopy (DHSV). Although both techniques are useful for PCD diagnosis, they have limitations and need to be supported by new methodologies, including genetic analysis of genes related to PCD. In this article, we review classical and recently associated mutations related to ciliary alterations leading to PCD, which can be useful for early diagnosis of the disease and subsequent early management of OME.

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Conflict of Interest

Manuel Mata, Lara Milian, Miguel Armengot and Carmen Carda declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Pathology. Faculty of Medicine and Odontology, University of Valencia, Blasco Ibáñez Avenue,15, 46010, Valencia, Spain

    Manuel Mata & Carmen Carda

  2. Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO), Cataluña Avenue, 21, 46020, Valencia, Spain

    Lara Milian

  3. Department of Surgery. Faculty of Medicine, University of Valencia, Blasco Ibañez Avenue, 15, 46010, Valencia, Spain

    Miguel Armengot

  4. Fundación para la Investigación del Hospital Clínico de la Comunidad Valenciana (INCLIVA), Blasco Ibañez Avenue, 15, 46010, Valencia, Spain

    Carmen Carda

  5. Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES), Carretera Soller Km 12. 07110 Bunyola, Mallorca, Illes Balears, Spain

    Manuel Mata

  6. Dr. Peset University Hospital, Gaspar Aguilar Avenue, 90, 46017, Valencia, Spain

    Lara Milian

  7. General University Hospital of Valencia, Spain, Tres Cruces Avenue, 2, 46100, Valencia, Spain

    Manuel Mata & Miguel Armengot

  8. Department of Pharmacology, Faculty of Medicine and Odontology, University of Valencia, Blasco Ibáñez Avenue,15, 46010, Valencia, Spain

    Lara Milian

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  1. Manuel Mata
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  2. Lara Milian
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  3. Miguel Armengot
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  4. Carmen Carda
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Correspondence to Manuel Mata.

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This article is part of the Topical Collection on Otitis

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Mata, M., Milian, L., Armengot, M. et al. Gene Mutations in Primary Ciliary Dyskinesia Related to Otitis Media. Curr Allergy Asthma Rep 14, 420 (2014). https://doi.org/10.1007/s11882-014-0420-1

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  • DOI: https://doi.org/10.1007/s11882-014-0420-1

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