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Though motile, ependymal cilia influencing cerebrospinal fluid flow in the central nervous system share many aspects of structure and function with motile cilia in the respiratory tract, hydrocephalus is rarely associated with PCD. Recently, pathogenic variants in<jats:italic>FOXJ1<\/jats:italic>(Chr 17q25.1) were identified causing PCD associated with hydrocephalus, reduced respiratory cilia number, axonemal microtubule disorganization, and occurring in a<jats:italic>de novo<\/jats:italic>, autosomal dominant inheritance pattern.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>Two patients with chronic oto\u2010sino\u2010pulmonary disease and hydrocephalus underwent candidate testing of<jats:italic>FOXJ1<\/jats:italic>. Coding region and splice junctions were sequenced and analyzed under the auspices of Genetic Disorders of Mucociliary Clearance Consortium.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Upon sequencing of the entire coding region and splice\u2010junctions, heterozygous, pathogenic variants in<jats:italic>FOXJ1<\/jats:italic>were discovered in exon 3 of two patients: an 11\u2010month\u2010old female with situs inversus totalis (NM_001454.4: c.945delC (p.Phe315Leufs*18)) and a 51\u00a0year\u2010old male, post\u2010double lung transplantation (NM_001454.4: c.929_932delACTG (p.Asp310Glyfs*22)).<jats:italic>FOXJ1<\/jats:italic>variants were not detected in the available parents and the siblings of these probands.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:italic>FOXJ1<\/jats:italic>pathogenic variants cause PCD in a<jats:italic>de novo<\/jats:italic>, autosomal dominant inheritance pattern, and are associated with hydrocephalus. Physicians treating patients with hydrocephalus and chronic oto\u2010sino\u2010pulmonary disease should be aware of this PCD association and test for<jats:italic>FOXJ1<\/jats:italic>variants.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1726","type":"journal-article","created":{"date-parts":[[2021,6,15]],"date-time":"2021-06-15T10:49:11Z","timestamp":1623754151000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":48,"title":["Autosomal dominant variants in<i>FOXJ1<\/i>causing primary ciliary dyskinesia in two patients with obstructive hydrocephalus"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6066-6750","authenticated-orcid":false,"given":"Adam J.","family":"Shapiro","sequence":"first","affiliation":[{"name":"Division of Pediatric Respiratory Medicine McGill University Health Centre Research Institute Montreal QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberley","family":"Kaspy","sequence":"additional","affiliation":[{"name":"Division of Pediatric Respiratory Medicine McGill University Health Centre Research Institute Montreal QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. Leigh Ann","family":"Daniels","sequence":"additional","affiliation":[{"name":"Division of Pulmonary Diseases and Critical Care Medicine Department of Medicine University of North Carolina at Chapel Hill Chapel Hill NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaclyn R.","family":"Stonebraker","sequence":"additional","affiliation":[{"name":"School of Medicine Marsico Lung Institute University of North Carolina at Chapel Hill Chapel Hill NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5318-2416","authenticated-orcid":false,"given":"Van\u2010Hung","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Pathology McGill University Health Centre Montreal QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyne","family":"Joyal","sequence":"additional","affiliation":[{"name":"Department of Pathology McGill University Health Centre Montreal QC Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael R.","family":"Knowles","sequence":"additional","affiliation":[{"name":"Department of Medicine Marsico Lung Institute University of North Carolina at Chapel Hill Chapel Hill NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maimoona A.","family":"Zariwala","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine Marsico Lung Institute University of North Carolina at Chapel Hill Chapel Hill NC USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,6,15]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22957"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1165\/ajrcmb.23.1.4070"},{"key":"e_1_2_9_4_1","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/S0065-3101(24)00175-0","article-title":"Ciliary defects: Cell biology and clinical perspectives","volume":"35","author":"Carson J. 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