{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T00:09:56Z","timestamp":1778285396705,"version":"3.51.4"},"reference-count":49,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T00:00:00Z","timestamp":1778198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81670216"],"award-info":[{"award-number":["81670216"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873686"],"award-info":[{"award-number":["81873686"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of Hunan Province","doi-asserted-by":"publisher","award":["2022JJ30922"],"award-info":[{"award-number":["2022JJ30922"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of Hunan Province","doi-asserted-by":"publisher","award":["2023JJ30715"],"award-info":[{"award-number":["2023JJ30715"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Scientific Research Project of Hunan Provincial Health Commission","award":["A202303018385"],"award-info":[{"award-number":["A202303018385"]}]},{"name":"Health Research Project of Hunan Provincial Health Commission","award":["W20243024"],"award-info":[{"award-number":["W20243024"]}]},{"name":"Undergraduate Innovative Training Plan Program of Central South University","award":["2024ZZTS0550"],"award-info":[{"award-number":["2024ZZTS0550"]}]},{"name":"Sublimation Scholars Project of Central South University"},{"name":"Wisdom Accumulation and Talent Cultivation Project of the Third Xiangya Hospital of Central South University","award":["YX202109"],"award-info":[{"award-number":["YX202109"]}]},{"name":"Distinguished Professor of the Lotus Scholars Award Program of Hunan Province, China"}],"content-domain":{"domain":["www.plosone.org"],"crossmark-restriction":false},"short-container-title":["PLoS One"],"abstract":"<jats:p>\n                    Primary ciliary dyskinesia (PCD) is a rare multi-system cilia-related disorder, and approximately 50% of individuals with PCD exhibit left-right asymmetry disorder. The dynein axonemal heavy chain 11 gene (\n                    <jats:italic>DNAH11<\/jats:italic>\n                    ) pathogenic variants are responsible for primary ciliary dyskinesia 7, with or without left-right asymmetry disorder. This study aimed to detect the pathogenic variants in three unrelated patients diagnosed with PCD or left-right asymmetry disorder based on the clinical and imaging examinations. Whole exome sequencing, Sanger sequencing, and comprehensive bioinformatics analyses were performed. Seven\n                    <jats:italic>DNAH11<\/jats:italic>\n                    heterozygous variants, which involved evolutionarily conserved residues and were predicted to exert deleterious effects, reduce protein stability, change protein conformation, and affect non-covalent residue\u2019s interactions, were identified as potential pathogenic factors responsible for these patients, respectively. In patient 1, three variants in compound heterozygotes, c.[3541A\u2009&gt;\u2009G];[4334G\u2009&gt;\u2009A;12428T\u2009&gt;\u2009C] (p.[(Ser1181Gly)];[(Arg1445Gln;Met4143Thr)]), were confirmed. In patient 2, two variants in potential compound heterozygotes, c.2912A\u2009&gt;\u2009G(;)7980A\u2009&gt;\u2009T (p.(Asp971Gly)(;)(Gln2660His)), were detected. In patient 3, two variants in compound heterozygotes, c.[845T\u2009&gt;\u2009C];[11402C\u2009&gt;\u2009G] (p.[(Met282Thr)];[(Pro3801Arg)]), were confirmed. The phenotypes observed in these patients are consistent with typical\/probably atypical PCD or\n                    <jats:italic>DNAH11<\/jats:italic>\n                    -associated ciliopathy, although functional validation is needed to confirm variant pathogenicity. These findings expand the phenotypic spectrum of\n                    <jats:italic>DNAH11<\/jats:italic>\n                    variants and may facilitate more accurate genetic diagnosis and counseling.\n                  <\/jats:p>","DOI":"10.1371\/journal.pone.0348352","type":"journal-article","created":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T23:11:09Z","timestamp":1778281869000},"page":"e0348352","update-policy":"https:\/\/doi.org\/10.1371\/journal.pone.corrections_policy","source":"Crossref","is-referenced-by-count":0,"title":["Variants in the DNAH11 gene responsible for primary ciliary dyskinesia or probably atypical primary ciliary dyskinesia presenting left-right asymmetry disorder"],"prefix":"10.1371","volume":"21","author":[{"given":"Kai","family":"Zhao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lamei","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Xia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheng","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yunjie","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiangang","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3240-4352","authenticated-orcid":true,"given":"Hao","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"340","published-online":{"date-parts":[[2026,5,8]]},"reference":[{"issue":"2","key":"pone.0348352.ref001","doi-asserted-by":"crossref","first-page":"202","DOI":"10.1016\/S2213-2600(19)30374-1","article-title":"Primary 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An official American Thoracic Society clinical practice guideline","volume":"197","author":"AJ Shapiro","year":"2018","journal-title":"Am J Respir Crit Care Med"},{"issue":"5","key":"pone.0348352.ref036","doi-asserted-by":"crossref","first-page":"532","DOI":"10.1002\/bies.201400215","article-title":"Dynein motors: how AAA+ ring opening and closing coordinates microtubule binding and linker movement","volume":"37","author":"H Schmidt","year":"2015","journal-title":"Bioessays"},{"issue":"5","key":"pone.0348352.ref037","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1038\/ncb2939","article-title":"Structural mechanism of the dynein power stroke","volume":"16","author":"J Lin","year":"2014","journal-title":"Nat Cell Biol"},{"key":"pone.0348352.ref038","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/1750-1172-9-11","article-title":"Primary ciliary dyskinesia: critical evaluation of clinical symptoms and diagnosis in patients with normal and abnormal 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