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Updated: Jan 13, 2026

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
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Identification of a Novel DNAAF3 Variant in a 54-Year-Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia

Mirja M Wirtz1, Sabine Ebner2, Anna Pleyers2

  • 1Department of Pneumology, Salzburger Landeskliniken, Paracelsus Medical University, Salzburg, Austria, pmu.ac.at.

Case Reports in Genetics
|January 9, 2026
PubMed

Insights

Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting mucus clearance. This case study highlights a new DNAAF3 gene variant in a middle-aged female patient, emphasizing the need for increased disease awareness and diagnosis.

Area of Science:

  • Genetics
  • Pulmonology
  • Rare Diseases

Background:

  • Primary ciliary dyskinesia (PCD) is a rare, inherited condition impacting mucociliary clearance.
  • Recurrent respiratory infections and bronchiectasis are common in PCD patients.
  • Despite increased awareness, PCD remains significantly underdiagnosed.

Purpose of the Study:

  • To report a case of a newly diagnosed middle-aged female with primary ciliary dyskinesia.
  • To describe a previously undescribed variant in the DNAAF3 gene associated with PCD.

Main Methods:

  • Clinical case presentation.
  • Genetic analysis to identify gene variants.

Main Results:

  • A middle-aged female patient was diagnosed with primary ciliary dyskinesia.
  • A novel variant of the DNAAF3 gene was identified in the patient.

Conclusions:

  • This case highlights a new genetic mutation in DNAAF3 contributing to PCD.
  • Undiagnosed PCD, even in middle age, underscores the need for improved diagnostic strategies.

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