{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:48:44Z","timestamp":1790768924486,"version":"4.1.0"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,2,26]],"date-time":"2021-02-26T00:00:00Z","timestamp":1614297600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100014857","name":"National Natural Science Foundation of China-Guangdong Joint Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100014857","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012476","name":"Fundamental Research Funds for Central Universities of the Central South University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100012476","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010083","name":"Hunan Provincial Innovation Foundation for Postgraduate","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010083","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of\u00a0Hunan Province","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold><jats:italic>ODAD3<\/jats:italic> encodes a protein of 595 amino acids and contain three highly conserved coiled-coil domains, which is essential for cilia axoneme dynein arm assembly and docking. Primary ciliary dyskinesia (PCD) of <jats:italic>ODAD3<\/jats:italic> deficiency are rarely reported. Female infertility in PCD related to <jats:italic>ODAD3<\/jats:italic> variants has not been reported.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> Whole-exome and Sanger sequencing were used to identify the disease-related gene of the patient with PCD in a consanguineous Chinese family. Domain analysis was applied to predict the impact of the variant on ODAD3 protein.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> The 35 year-old female patient exhibited chronic sinusitis, diffuse bronchiectasis, dextrocardia and infertility. We identified a novel homozygous variant in <jats:italic>ODAD3<\/jats:italic>, c.1166_1169dupAGAC, p.(Leu391Aspfs<jats:sup>*<\/jats:sup>105) in the PCD patient by exome sequencing and Sanger sequencing. This frameshift variant was predicted to be disease causing by bioinformatics analysis and was also not presented in the current authorized large genetic databases.<\/jats:p><jats:p><jats:bold>Conclusions:<\/jats:bold> Our study enriches the genetic spectrum and clinical phenotypes of <jats:italic>ODAD3<\/jats:italic> variants in PCD and provide more evidence for future genetic counseling and gene-targeted therapy for this disease.<\/jats:p>","DOI":"10.3389\/fgene.2021.652381","type":"journal-article","created":{"date-parts":[[2021,2,26]],"date-time":"2021-02-26T07:43:56Z","timestamp":1614325436000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["Case Report: Identification of a Novel ODAD3 Variant in a Patient With Primary Ciliary Dyskinesia"],"prefix":"10.3389","volume":"12","author":[{"given":"Rongchun","family":"Wang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danhui","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"Guo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cheng","family":"Lei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xu","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Qing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,2,26]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"571","DOI":"10.1387\/ijdb.052132ba","article-title":"Prevalence and genetics of immotile-cilia syndrome and left-handedness","volume":"50","author":"Afzelius","year":"2006","journal-title":"Int. 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