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.

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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
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article

Identification of a Novel DNAAF3 Variant in a 54‐Year‐Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD)

A. Pleyers, Mirja M. Wirtz, Sabine Ebner, Michael Studnicka et al.
Case Reports in Genetics
Cystic Fibrosis Research Advances
article

Identification of a Novel DNAAF3 Variant in a 54‐Year‐Old Patient With Newly Diagnosed Primary Ciliary Dyskinesia (PCD)

A. Pleyers, Mirja M. Wirtz, Sabine Ebner, Michael Studnicka, Natalie Firlei-Fleischmann, Richard Untersteiner
article en

Abstract

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.

Case Reports in GeneticsVol. 2026(1)
Salzburger Landeskliniken (AT)
Gender equality
Openalex Percentile: Top 96%
Cystic Fibrosis Research Advances
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