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Review
. 2021 Jul 31;22(15):8272.
doi: 10.3390/ijms22158272.

Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia

Steven K Brennan  1 , Thomas W Ferkol  1 , Stephanie D Davis  2
Affiliations
Review

Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia

Steven K Brennan et al. Int J Mol Sci. .

Abstract

Primary ciliary dyskinesia (PCD) is a rare inherited condition affecting motile cilia and leading to organ laterality defects, recurrent sino-pulmonary infections, bronchiectasis, and severe lung disease. Research over the past twenty years has revealed variability in clinical presentations, ranging from mild to more severe phenotypes. Genotype and phenotype relationships have emerged. The increasing availability of genetic panels for PCD continue to redefine these genotype-phenotype relationships and reveal milder forms of disease that had previously gone unrecognized.

Keywords: genotype-phenotype association; molecular genetics; primary ciliary dyskinesia.

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Conflict of interest statement

None of the authors has an actual or perceived conflict of interest concerning the information presented in the paper. The authors listed on the manuscript have reviewed and approved the content of the submission, and take full responsibility for the information provided.

Figures

Figure 1
Figure 1
Diagram of basic cilia structure in 9+2 and 9+0 microtubule arrangements.
See this image and copyright information in PMC

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