{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T14:53:44Z","timestamp":1791125624206,"version":"4.1.0"},"reference-count":35,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T00:00:00Z","timestamp":1791072000000},"content-version":"vor","delay-in-days":3,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T00:00:00Z","timestamp":1790812800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54HL096458"],"award-info":[{"award-number":["U54HL096458"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01HL117836"],"award-info":[{"award-number":["R01HL117836"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U2CTR002818"],"award-info":[{"award-number":["U2CTR002818"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000897","name":"Cystic Fibrosis Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000897","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2026,10]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Primary ciliary dyskinesia (PCD), a disorder of motile ciliary dysfunction causing chronic respiratory infections, may also rarely present with aspects of non\u2010motile ciliary dysfunction, including retinitis, central nervous system malformations, skeletal dysplasia, and sensorineural hearing loss. However, congenital microcephaly has not been previously associated with PCD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We identified three children with congenital microcephaly and chronic respiratory disease consistent with PCD. Comprehensive PCD diagnostic testing and whole exome sequencing were performed. Characterization of nasal epithelial cells after expansion and regrowth included reverse transcription polymerase chain reaction, high speed videomicroscopy, and transcript analysis of novel genetic variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Three pediatric cases from two families had primary microcephaly from autosomal recessive variants in\n                      <jats:italic>CEP135<\/jats:italic>\n                      . All cases displayed chronic suppurative respiratory symptoms, recurrent otitis media, and bronchiectasis with low nasal nitric oxide. One case had pathogenic, compound heterozygous, loss of function variants, while the other two cases had homozygous variants of uncertain significance. Transcript analyses of\n                      <jats:italic>CEP135<\/jats:italic>\n                      variants of uncertain significance supported a splicing defect as disease\u2010causing. Regrown nasal epithelial cells demonstrated overall normal ciliary ultrastructure with decreased numbers of full\u2010length axonemes. Ciliary beat pattern was grossly abnormal, and distal axoneme swelling with bulbous\u2010tip structures were identified pre\u2010 and post\u2010cellular regrowth.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      These cases establish variants in\n                      <jats:italic>CEP135<\/jats:italic>\n                      as a novel cause of PCD with microcephaly. The TEM findings of bulbous ciliary tips may be a reliable marker of overlapping ciliopathies in patients with aspects of motile and non\u2010motile ciliary dysfunction.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ppul.71866","type":"journal-article","created":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T14:33:17Z","timestamp":1791124397000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Variants in\n                    <i>CEP135<\/i>\n                    Cause Congenital Microcephaly and Primary Ciliary Dyskinesia"],"prefix":"10.1002","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-1086-9478","authenticated-orcid":false,"given":"Abigail","family":"Bergman\u2010Sieger","sequence":"first","affiliation":[{"name":"Division of Pulmonary and Sleep Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc\u2010Andr\u00e9","family":"Turcot","sequence":"additional","affiliation":[{"name":"Sainte Justine Hospital Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence E.","family":"Ostrowski","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of North Carolina at Chapel Hill Chapel Hill North Carolina USA"},{"name":"Marsico Lung Institute\/Cystic Fibrosis Research and Treatment Center University of North Carolina at Chapel Hill Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8656-957X","authenticated-orcid":false,"given":"Patrick R.","family":"Sears","sequence":"additional","affiliation":[{"name":"Marsico Lung Institute\/Cystic Fibrosis Research and Treatment Center University of North Carolina at Chapel Hill Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1619-1393","authenticated-orcid":false,"given":"Maimoona A.","family":"Zariwala","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of North Carolina at Chapel Hill Chapel Hill North Carolina USA"},{"name":"Marsico Lung Institute\/Cystic Fibrosis Research and Treatment Center University of North Carolina at Chapel Hill Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fateh","family":"Bechkir","sequence":"additional","affiliation":[{"name":"Research Institute of the McGill University Health Centre Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3297-8532","authenticated-orcid":false,"given":"Lisa R.","family":"Young","sequence":"additional","affiliation":[{"name":"Division of Pulmonary and Sleep Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA"},{"name":"Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6066-6750","authenticated-orcid":false,"given":"Adam J.","family":"Shapiro","sequence":"additional","affiliation":[{"name":"Research Institute of the McGill University Health Centre Montreal Quebec Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3140-6057","authenticated-orcid":false,"given":"Maureen B.","family":"Parenti","sequence":"additional","affiliation":[{"name":"Division of Pulmonary and Sleep Medicine Children's Hospital of Philadelphia Philadelphia Pennsylvania USA"},{"name":"Perelman School of Medicine at the University of Pennsylvania Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,4]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm2278"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrm.2017.60"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00745-2025"},{"key":"e_1_2_11_5_1","volume-title":"GeneReviews(\u00ae)","author":"Zariwala M. 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