HY-DIN' in the Cilia: Discovery of Central Pair-related Mutations in Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is a genetic motor ciliopathy that is increasingly recognized as a cause of chronic upper and lower respiratory tract infections in children but is underdiagnosed in adults. Advances in the field have made validating the diagnosis of PCD both easier and more difficult. The task has been facilitated by guidelines issued by the American Thoracic Society (ATS) and European Respiratory Society, and simplified by the commercial availability of gene panels for genetic testing. Here, Dutcher and Brody present the paper by Cidric et al. which describes what appears to be a highly reliable way to initiate the diagnosis of HYDIN pathogenic variants in PCD using immunofluorescent staining of cilia for an absence of SPEF2 (Sperm Flagellar Protein 2).