{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,29]],"date-time":"2026-10-29T17:50:53Z","timestamp":1793296253069,"version":"4.5.0"},"reference-count":44,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2006,10,1]],"date-time":"2006-10-01T00:00:00Z","timestamp":1159660800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2006,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Rationale<\/jats:title>\n                    <jats:p>Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive, genetic disorder characterized by ciliary dysfunction, sino-pulmonary disease, and situs inversus. Disease-causing mutations have been reported in DNAI1 and DNAH5 encoding outer dynein arm (ODA) proteins of cilia.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>We analyzed DNAI1 to identify disease-causing mutations in PCD and to determine if the previously reported IVS1+2_3insT (219+3insT) mutation represents a \u201cfounder\u201d or \u201chot spot\u201d mutation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Patients with PCD from 179 unrelated families were studied. Exclusion mapping showed no linkage to DNAI1 for 13 families; the entire coding region was sequenced in a patient from the remaining 166 families. Reverse transcriptase\u2013polymerase chain reaction (RT-PCR) was performed on nasal epithelial RNA in 14 families.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Mutations in DNAI1 including 12 novel mutations were identified in 16 of 179 (9%) families; 14 harbored biallelic mutations. Deep intronic splice mutations were not identified by reverse transcriptase\u2013polymerase chain reaction. The prevalence of mutations in families with defined ODA defect was 13%; no mutations were found in patients without a defined ODA defect. The previously reported IVS1+2_3insT mutation accounted for 57% (17\/30) of mutant alleles, and marker analysis indicates a common founder for this mutation. Seven mutations occurred in three exons (13, 16, and 17); taken together with previous reports, these three exons are emerging as mutation clusters harboring 29% (12\/42) of mutant alleles.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>A total of 10% of patients with PCD are estimated to harbor mutations in DNAI1; most occur as a common founder IVS1+2_3insT or in exons 13, 16, and 17. This information is useful for establishing a clinical molecular genetic test for PCD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1164\/rccm.200603-370oc","type":"journal-article","created":{"date-parts":[[2006,7,20]],"date-time":"2006-07-20T21:04:23Z","timestamp":1153429463000},"page":"858-866","source":"Crossref","is-referenced-by-count":158,"title":["Mutations of\n                    <b>\n                      <i>DNAI1<\/i>\n                    <\/b>\n                    in Primary Ciliary Dyskinesia"],"prefix":"10.1093","volume":"174","author":[{"given":"Maimoona A.","family":"Zariwala","sequence":"first","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale, Cr\u00e9teil, France; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; Royal Free and University College Medical School, London, United Kingdom; Concord Hospital, Sydney; Anatomy & Cell Biology, University of Melbourne, Melbourne, Australia; and Cystic Fibrosis Center, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaret W.","family":"Leigh","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale, Cr\u00e9teil, France; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; Royal Free and University College Medical School, London, United Kingdom; Concord Hospital, Sydney; Anatomy & Cell Biology, University of Melbourne, Melbourne, Australia; and Cystic Fibrosis Center, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck","family":"Ceppa","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale, Cr\u00e9teil, France; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; Royal Free and University College Medical School, London, United Kingdom; Concord Hospital, Sydney; Anatomy & Cell Biology, University of Melbourne, Melbourne, Australia; and Cystic Fibrosis Center, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcus P.","family":"Kennedy","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale, Cr\u00e9teil, France; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; Royal Free and University College Medical School, London, United Kingdom; Concord Hospital, Sydney; Anatomy & Cell Biology, University of Melbourne, Melbourne, Australia; and Cystic Fibrosis Center, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peadar G.","family":"Noone","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale, Cr\u00e9teil, France; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; Royal Free and University College Medical School, London, United Kingdom; Concord Hospital, Sydney; Anatomy & Cell Biology, University of Melbourne, Melbourne, Australia; and Cystic Fibrosis Center, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johnny L.","family":"Carson","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale, Cr\u00e9teil, France; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; Royal Free and University College Medical School, London, United Kingdom; Concord Hospital, Sydney; Anatomy & Cell Biology, University of Melbourne, Melbourne, Australia; and Cystic Fibrosis Center, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milan J.","family":"Hazucha","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale, Cr\u00e9teil, France; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; Royal Free and University College Medical School, London, United Kingdom; Concord Hospital, Sydney; Anatomy & Cell Biology, University of Melbourne, Melbourne, Australia; and Cystic Fibrosis Center, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana","family":"Lori","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale, Cr\u00e9teil, France; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; Royal Free and University College Medical School, London, United Kingdom; Concord Hospital, Sydney; Anatomy & Cell Biology, University of Melbourne, Melbourne, Australia; and Cystic Fibrosis Center, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judit","family":"Horvath","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale, Cr\u00e9teil, France; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; Royal Free and University College Medical School, London, United Kingdom; Concord Hospital, Sydney; Anatomy & Cell Biology, University of Melbourne, Melbourne, Australia; and Cystic Fibrosis Center, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heike","family":"Olbrich","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale, Cr\u00e9teil, France; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; Royal Free and University College Medical School, London, United Kingdom; Concord Hospital, Sydney; Anatomy & Cell Biology, University of Melbourne, Melbourne, Australia; and Cystic Fibrosis Center, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Niki T.","family":"Loges","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale, Cr\u00e9teil, France; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; Royal Free and University College Medical School, London, United Kingdom; Concord Hospital, Sydney; Anatomy & Cell Biology, University of Melbourne, Melbourne, Australia; and Cystic Fibrosis Center, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Marie","family":"Bridoux","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale, Cr\u00e9teil, France; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; Royal Free and University College Medical School, London, United Kingdom; Concord Hospital, Sydney; Anatomy & Cell Biology, University of Melbourne, Melbourne, Australia; and Cystic Fibrosis Center, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ga\u00eblle","family":"Pennarun","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; 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Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale, Cr\u00e9teil, France; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; Royal Free and University College Medical School, London, United Kingdom; Concord Hospital, Sydney; Anatomy & Cell Biology, University of Melbourne, Melbourne, Australia; and Cystic Fibrosis Center, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah M.","family":"Mitchison","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; Institut de la Sant\u00e9 et de la Recherche M\u00e9dicale, Cr\u00e9teil, France; Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany; Royal Free and University College Medical School, London, United Kingdom; Concord Hospital, Sydney; Anatomy & Cell Biology, University of Melbourne, Melbourne, Australia; and Cystic Fibrosis Center, Verona, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Chodhari","sequence":"additional","affiliation":[{"name":"University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; 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