Emerging Genotype-Phenotype Relationships in Primary Ciliary Dyskinesia

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.

Automated summary

PCD is a rare inherited condition affecting motile cilia and leading to organ laterality defects, recurrent infections, bronchiectasis, and severe lung disease. Research has shown variability in clinical presentations and relationships between genotype and phenotype. Advancements in genetic testing continue to redefine these relationships and uncover previously unrecognized milder forms of the disease.