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While such ciliopathies have been demonstrated to involve primary cilia defects, we show motile cilia dysfunction in the airway of a patient diagnosed with cranioectodermal dysplasia. While this patient had mild thoracic dystrophy not requiring surgical treatment, there was nevertheless newborn respiratory distress, restrictive airway disease with possible obstructive airway involvement, repeated respiratory infections, and atelectasis. High\u2010resolution videomicroscopy of nasal epithelial biopsy showed immotile\/dyskinetic cilia and nasal nitric oxide was reduced, both of which are characteristics of primary ciliary dyskinesia, a sinopulmonary disease associated with mucociliary clearance defects due to motile cilia dysfunction in the airway. Exome sequencing analysis of this patient identified compound heterozygous mutations in <jats:italic>WDR35<\/jats:italic>, but no mutations in any of the 30 known primary ciliary dyskinesia genes or other cilia\u2010related genes. Given that <jats:italic>WDR35<\/jats:italic> is only known to be required for primary cilia function, we carried out <jats:italic>WDR35<\/jats:italic> siRNA knockdown in human respiratory epithelia to assess the role of <jats:italic>WDR35<\/jats:italic> in motile cilia function. This showed <jats:italic>WDR35<\/jats:italic> deficiency disrupted ciliogenesis in the airway, indicating <jats:italic>WDR35<\/jats:italic> is also required for formation of motile cilia. Together, these findings suggest patients with <jats:italic>WDR35<\/jats:italic> mutations have an airway mucociliary clearance defect masked by their restrictive airway disease. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37133","type":"journal-article","created":{"date-parts":[[2015,4,25]],"date-time":"2015-04-25T08:23:33Z","timestamp":1429950213000},"page":"2188-2196","source":"Crossref","is-referenced-by-count":40,"title":["Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia"],"prefix":"10.1002","volume":"167","author":[{"given":"You","family":"Li","sequence":"first","affiliation":[{"name":"Department of Developmental Biology University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea S.","family":"Garrod","sequence":"additional","affiliation":[{"name":"Division of Pulmonary Medicine Allergy &amp; Immunology, Children's Hospital of Pittsburgh of University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suneeta","family":"Madan\u2010Khetarpal","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Children's Hospital of Pittsburgh of University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gayathri","family":"Sreedher","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Children's Hospital of Pittsburgh of University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianne","family":"McGuire","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics Children's Hospital of Pittsburgh of University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"},{"name":"Department of Medical Genetics Baylor College of Medicine Houston Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisato","family":"Yagi","sequence":"additional","affiliation":[{"name":"Department of Developmental Biology University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nikolai T.","family":"Klena","sequence":"additional","affiliation":[{"name":"Department of Developmental Biology University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"George C.","family":"Gabriel","sequence":"additional","affiliation":[{"name":"Department of Developmental Biology University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Omar","family":"Khalifa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maliha","family":"Zahid","sequence":"additional","affiliation":[{"name":"Department of Developmental Biology University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashok","family":"Panigrahy","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology Children's Hospital of Pittsburgh of University of Pittsburgh School of Medicine Pittsburgh Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel J.","family":"Weiner","sequence":"additional","affiliation":[{"name":"Division of Pulmonary Medicine Allergy &amp; 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