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

TL;DR

A new genetic variant in the DNAAF3 gene was identified in a middle-aged woman diagnosed with primary ciliary dyskinesia.

Contribution

The study reports a previously undescribed DNAAF3 variant in a newly diagnosed PCD patient.

Findings

A 54-year-old female was diagnosed with primary ciliary dyskinesia.

A novel variant in the DNAAF3 gene was identified in the patient.

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.

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