Identification of a Novel <i>DNAAF3</i> Variant in a 54‐Year‐Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD)
Primary ciliary dyskinesia (PCD) is a rare and heterogeneous inherited disease characterized by impaired mucociliary clearance. Patients with PCD typically present with recurrent respiratory infections resulting in the development of bronchiectasis. Even though awareness of the disease has increased over the years, PCD remains underdiagnosed. We here present a case of a newly diagnosed middle-aged female found to have a previously undescribed variant of the disease-associated <i>DNAAF3</i> gene.
Authors
- A. Pleyers
- Mirja M. Wirtz (ORCID: https://orcid.org/0000-0002-8356-9096)
- Sabine Ebner
- Michael Studnicka
- Natalie Firlei-Fleischmann
- Richard Untersteiner
Institutions
- Salzburger Landeskliniken (AT)
Publication Details
- Journal
- Case Reports in Genetics
- Published
- 2026-01-01
- DOI
- https://doi.org/10.1155/crig/5137651
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00