{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T19:51:28Z","timestamp":1765828288630,"version":"3.40.5"},"reference-count":21,"publisher":"Wiley","license":[{"start":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T00:00:00Z","timestamp":1682380800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Medicine"],"published-print":{"date-parts":[[2023,4,25]]},"abstract":"<jats:p>Background. Primary ciliary dyskinesia (PCD), also known as the immotile-cilia syndrome, is a clinically and genetically heterogeneous syndrome. Improper function of the cilia causes impaired mucociliary clearance. Neonatal respiratory distress, rhinosinusitis, recurrent chest infections, wet cough, and otitis media are respiratory presentations of this disease. It could also manifest as infertility in males as well as laterality defects in both sexes, such as situs abnormalities (Kartagener syndrome). During the past decade, numerous pathogenic variants in 40 genes have been identified as the causatives of primary ciliary dyskinesia. DNAH11 (dynein axonemal heavy chain 11) is a gene that is responsible for the production of cilia\u2019s protein and encodes the outer dynein arm. Dynein heavy chains are motor proteins of the outer dynein arms and play an essential role in ciliary motility. Case Presentation. A 3-year-old boy, the offspring of consanguineous parents, was referred to the pediatric clinical immunology outpatient department with a history of recurrent respiratory tract infections and periodic fever. Furthermore, on medical examination, situs inversus was recognized. His lab results revealed elevated levels of erythrocyte sedimentation rate (ESR) and C reactive protein (CRP). Serum IgG, IgM, and IgA levels were normal, while IgE levels were elevated. Whole exome sequencing (WES) was performed for the patient. WES demonstrated a novel homozygous nonsense variant in DNAH11 (c.5247G\u2009&gt;\u2009A; p. Trp1749Ter). Conclusion. We reported a novel homozygous nonsense variant in DNAH11 in a 3-year-old boy with primary ciliary dyskinesia. Biallelic pathogenic variants in one of the many coding genes involved in the process of ciliogenesis lead to PCD.<\/jats:p>","DOI":"10.1155\/2023\/8436715","type":"journal-article","created":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T21:20:06Z","timestamp":1682457606000},"page":"1-5","source":"Crossref","is-referenced-by-count":4,"title":["DNAH11 and a Novel Genetic Variant Associated with Situs Inversus: A Case Report and Review of the Literature"],"prefix":"10.1155","volume":"2023","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5824-3396","authenticated-orcid":true,"given":"Fatemeh","family":"Sodeifian","sequence":"first","affiliation":[{"name":"Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran"},{"name":"Network of Interdisciplinarity in Neonates and Infants (NINI), Universal Scientific Education and Research Network (USERN), Tehran, Iran"},{"name":"USERN Office, Shahid Beheshti University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6429-7729","authenticated-orcid":true,"given":"Noosha","family":"Samieefar","sequence":"additional","affiliation":[{"name":"Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran"},{"name":"Network of Interdisciplinarity in Neonates and Infants (NINI), Universal Scientific Education and Research Network (USERN), Tehran, Iran"},{"name":"USERN Office, Shahid Beheshti University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9710-3166","authenticated-orcid":true,"given":"Sepideh","family":"Shahkarami","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dr. von Hauner Children\u2019s Hospital, University Hospital, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen (LMU), Munich, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9897-867X","authenticated-orcid":true,"given":"Elham","family":"Rayzan","sequence":"additional","affiliation":[{"name":"International Hematology\/Oncology of Pediatric Experts (IHOPE), Universal Scientific Education and Research Network (USERN), Boston, Massachusetts, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5013-9145","authenticated-orcid":true,"given":"Simin","family":"Seyedpour","sequence":"additional","affiliation":[{"name":"MD-MPH, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran"},{"name":"Research Center for Immunodeficiencies (RCID), Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2251-2387","authenticated-orcid":true,"given":"Meino","family":"Rohlfs","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dr. von Hauner Children\u2019s Hospital, University Hospital, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen (LMU), Munich, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0956-0445","authenticated-orcid":true,"given":"Christoph","family":"Klein","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Dr. von Hauner Children\u2019s Hospital, University Hospital, Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen (LMU), Munich, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6457-1492","authenticated-orcid":true,"given":"Delara","family":"Babaie","sequence":"additional","affiliation":[{"name":"Department of Allergy and Clinical Immunology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3836-1827","authenticated-orcid":true,"given":"Nima","family":"Rezaei","sequence":"additional","affiliation":[{"name":"Network of Interdisciplinarity in Neonates and Infants (NINI), Universal Scientific Education and Research Network (USERN), Tehran, Iran"},{"name":"Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children\u2019s Medical Center, Tehran University of Medical Sciences, Tehran, Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1097\/gim.0b013e3181a53562"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1726"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1016\/s2213-2600(19)30374-1"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-01171-2"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2015.09.001"},{"key":"6","article-title":"Cilia and flagella: structure and movement","author":"H. Lodish","year":"2000","journal-title":"Molecular and Cellular Biology"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1161\/circulationaha.106.649038"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1172\/jci0215217"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01090-2016"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00176608"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2018.05.007"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0210-5"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-021-00970-4"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.2147\/tacg.s127129"},{"key":"15","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102755"},{"key":"16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccm.2016.04.008"},{"key":"17","doi-asserted-by":"publisher","DOI":"10.1111\/eci.12254"},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201302-0341oc"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0252786"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.23304"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2017.00135"}],"container-title":["Case Reports in Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crim\/2023\/8436715.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crim\/2023\/8436715.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crim\/2023\/8436715.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T21:20:10Z","timestamp":1682457610000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crim\/2023\/8436715\/"}},"subtitle":[],"editor":[{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2023,4,25]]},"references-count":21,"alternative-id":["8436715","8436715"],"URL":"https:\/\/doi.org\/10.1155\/2023\/8436715","relation":{},"ISSN":["1687-9635","1687-9627"],"issn-type":[{"type":"electronic","value":"1687-9635"},{"type":"print","value":"1687-9627"}],"subject":[],"published":{"date-parts":[[2023,4,25]]}}}