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Updated: Sep 26, 2025
09:03
Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic
Published on: November 7, 2020
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[Pathogenic genes and corresponding ciliary defects associated with primary ciliary dyskinesia]
Lina Wang1, Baoping Xu, Liwei Gao
1Respiratory Medicine Department, Beijing Children' s Hospital, Capital Medical University, National Clinical Research Center of Respiratory Diseases, National Center for Children' s Health, Beijing 100045, China. xubaopingbch@163.com.
Summary
Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia. This review details PCD-associated genes and cilia dysfunction, aiding early disease identification.
Area of Science:
- Genetics
- Cell Biology
- Medical Research
Background:
- Primary ciliary dyskinesia (PCD) is a heterogeneous genetic disorder impacting motile cilia function.
- Diagnosing PCD is challenging due to variable clinical presentations and lack of a single definitive test.
- Over 40 genes are linked to PCD, yet research often overlooks rarer genetic contributors.
Purpose of the Study:
- To comprehensively review genes associated with Primary ciliary dyskinesia.
- To describe the characteristics of cilia dysfunction linked to these genes.
- To establish a foundation for earlier identification of rare PCD genetic forms.
Main Methods:
- Literature review of scientific articles and genetic databases.
- Compilation of known PCD-associated genes.
- Analysis of reported phenotypic and genotypic data.
Main Results:
- Summary of over 40 genes implicated in PCD.
- Detailed description of cilia abnormalities corresponding to specific genetic mutations.
- Identification of research gaps concerning rare PCD genes.
Conclusions:
- Genetic testing is crucial for PCD diagnosis, alongside auxiliary methods.
- Understanding the full spectrum of PCD genes is essential for comprehensive diagnosis.
- This review provides a valuable resource for researchers and clinicians in identifying rare PCD cases.
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