Work

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

Year: 2026

Type: article

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 DNAAF3 gene.

Source: Case Reports in Genetics

DOI: 10.1155/crig/5137651

Authors: Mirja M. Wirtz, Sabine Ebner, Anna Pleyers, Natalie Firlei-Fleischmann, Richard Untersteiner, Michael Studnicka

Institutions: Paracelsus Medical University, Salzburger Landeskliniken

Language: English

Topic: Cystic Fibrosis Research Advances

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $790