Gene Mutations in Primary Ciliary Dyskinesia Related to Otitis Media

  • Manuel Mata
  • Lara Milian
  • Miguel Armengot
  • Carmen Carda
Part of the following topical collections:
  1. Topical Collection on Otitis


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.


Primary ciliary dyskinesia Otitis media Kartagener syndrome Ciliopathies Genetics Cilia Gene mutations 


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Manuel Mata
    • 1
    • 5
    • 7
  • Lara Milian
    • 2
    • 6
    • 8
  • Miguel Armengot
    • 3
    • 7
  • Carmen Carda
    • 1
    • 4
  1. 1.Department of Pathology. Faculty of Medicine and OdontologyUniversity of ValenciaValenciaSpain
  2. 2.Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)ValenciaSpain
  3. 3.Department of Surgery. Faculty of MedicineUniversity of ValenciaValenciaSpain
  4. 4.Fundación para la Investigación del Hospital Clínico de la Comunidad Valenciana (INCLIVA)ValenciaSpain
  5. 5.Centro de Investigación Biomédica en Red de Enfermedades Respiratorias (CIBERES)MallorcaSpain
  6. 6.Dr. Peset University HospitalValenciaSpain
  7. 7.General University Hospital of Valencia, SpainValenciaSpain
  8. 8.Department of PharmacologyFaculty of Medicine and Odontology, University of ValenciaValenciaSpain

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