{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:16:09Z","timestamp":1791288969562,"version":"4.3.0"},"reference-count":31,"publisher":"National Academy of Sciences","issue":"16","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2002,8,6]]},"abstract":"<jats:p>\n                    Primary ciliary dyskinesia (PCD; MIM 242650) is an autosomal recessive disorder of ciliary dysfunction with extensive genetic heterogeneity. PCD is characterized by bronchiectasis and upper respiratory tract infections, and half of the patients with PCD have situs inversus (Kartagener syndrome). We characterized the transcript and the genomic organization of the axonemal heavy chain dynein type 11 (\n                    <jats:italic>DNAH1<\/jats:italic>\n                    1) gene, the human homologue of murine\n                    <jats:italic>Dnah11<\/jats:italic>\n                    or\n                    <jats:italic>lrd<\/jats:italic>\n                    , which is mutated in the\n                    <jats:italic>iv<\/jats:italic>\n                    \/\n                    <jats:italic>iv<\/jats:italic>\n                    mouse model with situs inversus. To assess the role of\n                    <jats:italic>DNAH11<\/jats:italic>\n                    , which maps on chromosome 7p21, we searched for mutations in the 82 exons of this gene in a patient with situs inversus totalis, and probable Kartagener syndrome associated with paternal uniparental disomy of chromosome 7 (patUPD7). We identified a homozygous nonsense mutation (R2852X) in the\n                    <jats:italic>DNAH11<\/jats:italic>\n                    gene. This patient is remarkable because he is also homozygous for the F508del allele of the cystic fibrosis transmembrane conductance regulator (\n                    <jats:italic>CFTR<\/jats:italic>\n                    ) gene. Sequence analysis of the\n                    <jats:italic>DNAH11<\/jats:italic>\n                    gene in an additional 6 selected PCD sibships that shared\n                    <jats:italic>DNAH11<\/jats:italic>\n                    alleles revealed polymorphic variants and an R3004Q substitution in a conserved position that might be pathogenic. We conclude that mutations in the coding region of\n                    <jats:italic>DNAH11<\/jats:italic>\n                    account for situs inversus totalis and probably a minority of cases of PCD.\n                  <\/jats:p>","DOI":"10.1073\/pnas.152337699","type":"journal-article","created":{"date-parts":[[2002,9,30]],"date-time":"2002-09-30T12:42:53Z","timestamp":1033389773000},"page":"10282-10286","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":298,"title":["Mutations in the\n                    <i>DNAH11<\/i>\n                    (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia"],"prefix":"10.1073","volume":"99","author":[{"given":"Lucia","family":"Bartoloni","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Louis","family":"Blouin","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanzhen","family":"Pan","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Gehrig","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amit K.","family":"Maiti","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nathalie","family":"Scamuffa","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Colette","family":"Rossier","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Jorissen","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Armengot","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maggie","family":"Meeks","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah M.","family":"Mitchison","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eddie M. K.","family":"Chung","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia D.","family":"Delozier-Blanchet","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William J.","family":"Craigen","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stylianos E.","family":"Antonarakis","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Geneva Medical School, and University Hospitals, 1211 Geneva 4, Switzerland; Departments of Molecular and Human Genetics and of Pediatrics, Baylor College of Medicine, Houston, TX 77030; Departments of Human Genetics and Ear, Nose, and Throat, University Hospital of Leuven, B-3000 Leuven, Belgium; Otorhinolaryngology Service, General and University Hospital, Valencia E-46014, Spain; and Department of Pediatrics and Child Health, Royal Free and University..."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2002,7,25]]},"reference":[{"key":"e_1_3_3_1_2","unstructured":"Afzelius B. 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