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Primary ciliopathies are associated with multisystem syndromes typically affecting the brain, kidney, and eye, as well as other organ systems such as the liver, skeleton, auditory system, and metabolism. Motile ciliopathies are a heterogenous group of disorders with defects in specialised motile ciliated tissues found within the lung, brain, and reproductive system, and are associated with primary ciliary dyskinesia, bronchiectasis, infertility and rarely hydrocephalus. Primary and motile cilia share defined core ultra\u2010structures with an overlapping proteome, and human disease phenotypes can reflect both primary and motile ciliopathies. <jats:italic>CEP164<\/jats:italic> encodes a centrosomal distal appendage protein vital for primary ciliogenesis. Human <jats:italic>CEP164<\/jats:italic> mutations are typically described in patients with nephronophthisis\u2010related primary ciliopathies but have also been implicated in motile ciliary dysfunction. Here we describe a patient with an atypical motile ciliopathy phenotype and biallelic <jats:italic>CEP164<\/jats:italic> variants. This work provides further evidence that <jats:italic>CEP164<\/jats:italic> mutations can contribute to both primary and motile ciliopathy syndromes, supporting their functional and clinical overlap, and informs the investigation and management of <jats:italic>CEP164<\/jats:italic> ciliopathy patients.<\/jats:p>","DOI":"10.1111\/cge.14251","type":"journal-article","created":{"date-parts":[[2022,10,23]],"date-time":"2022-10-23T15:29:50Z","timestamp":1666538990000},"page":"330-334","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Biallelic variants in <scp><i>CEP164<\/i><\/scp> cause a motile ciliopathy\u2010like syndrome"],"prefix":"10.1111","volume":"103","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4251-9903","authenticated-orcid":false,"given":"Laura A.","family":"Devlin","sequence":"first","affiliation":[{"name":"Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice","family":"Coles","sequence":"additional","affiliation":[{"name":"Primary Ciliary Dyskinesia Centre, NIHR Southampton Biomedical Research Centre University of Southampton Faculty of Medicine and University Hospital Southampton NHS Foundation Trust  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire L.","family":"Jackson","sequence":"additional","affiliation":[{"name":"Primary Ciliary Dyskinesia Centre, NIHR Southampton Biomedical Research Centre University of Southampton Faculty of Medicine and University Hospital Southampton NHS Foundation Trust  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8245-1929","authenticated-orcid":false,"given":"Miguel","family":"Barroso\u2010Gil","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben","family":"Green","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine University Hospitals NHS Trust  Portsmouth UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Woolf T.","family":"Walker","sequence":"additional","affiliation":[{"name":"Primary Ciliary Dyskinesia Centre, NIHR Southampton Biomedical Research Centre University of Southampton Faculty of Medicine and University Hospital Southampton NHS Foundation Trust  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1494-2467","authenticated-orcid":false,"given":"N. Simon","family":"Thomas","sequence":"additional","affiliation":[{"name":"Human Development and Health, Faculty of Medicine University of Southampton  Southampton UK"},{"name":"Wessex Regional Genetics Laboratory Salisbury NSF Foundation Trust, Salisbury District Hospital  Salisbury UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9285-1317","authenticated-orcid":false,"given":"James","family":"Thompson","sequence":"additional","affiliation":[{"name":"Primary Ciliary Dyskinesia Centre, NIHR Southampton Biomedical Research Centre University of Southampton Faculty of Medicine and University Hospital Southampton NHS Foundation Trust  Southampton UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8531-1534","authenticated-orcid":false,"given":"Simon A.","family":"Rock","sequence":"additional","affiliation":[{"name":"North East Innovation Lab The Newcastle upon Tyne Hospitals NHS Foundation Trust, The Biosphere  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruxandra","family":"Neatu","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Powell","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisa","family":"Molinari","sequence":"additional","affiliation":[{"name":"Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University  Newcastle upon Tyne UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Genomics England Research 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