Exploring Rare Genetic Mutations in PCD: A Study of 8 Turkish Patients
with Novel Gene Alterations Coupled by Their Ciliary Beat Frequency and
Confocal Microscopy Analyses
Abstract
Primary ciliary dyskinesia is a rare genetic ciliopathy characterized by
impaired clearance of the airway, leading to recurrent airway infections
and various pulmonary conditions. The underlying cause of PCD is complex
and involves diverse mechanisms. On one hand, advancements in genetic
analysis techniques have significantly contributed to identifying the
mutated genes associated with PCD, which in turn, can aid in
understanding the variable clinical presentations of the disease. On the
other hand, based on the mutated gene, disease manifestation may change
and this makes it more challenging to establish a standardized diagnosis
approach. Hence, it is important to approach it with a comprehensive
perspective. In this study, 8 Turkish individuals with PCD were
subjected to whole-exome sequencing (WES) analysis, as well as other
diagnostic tests such as ciliary beat frequency measurement,
immunofluorescence staining (IF), and confocal microscopy. The findings
from this study not only contribute to the enlightenment of PCD
aetiology but also emphasize the importance of a multidisciplinary
approach when diagnosing and understanding this complex genetic
disorder.