Questionnaire assessed genotypes and associations with symptoms in primary ciliary dyskinesia

Knowledge about genotype-phenotype associations is crucial for understanding the clinical variability of primary ciliary dyskinesia (PCD) [1]. More than 50 known disease-causing genes lead to different ciliary structural defects resulting in differing phenotypical characteristics [2]. For example, laterality defects are not associated with mutations in genes related with the central pair apparatus, nexin link, or radial spoke complex ( e.g. HYDIN and RSPH9 ), while they are seen in approximately 50% of individuals with mutations in most other genes [3, 4]. Similarly, congenital heart disease is less frequent in patients with these genes as congenital heart disease is associated with laterality defects [5, 6]. Footnotes This manuscript has recently been accepted for publication in the ERJ Open Research . It is published here in its accepted form prior to copyediting and typesetting by our production team. After these production processes are complete and the authors have approved the resulting proofs, the article will move to the latest issue of the ERJOR online. Please open or download the PDF to view this article. Conflict of interest: The authors have nothing to disclose.