{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T23:01:45Z","timestamp":1780527705491,"version":"3.54.1"},"reference-count":36,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,4]],"date-time":"2026-06-04T00:00:00Z","timestamp":1780531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p>\n                    Primary ciliary dyskinesia (PCD) is a rare disorder characterized by dysfunction of motile cilia and chronic progressive respiratory disease, mianly inherited in an autosomal recessive manner. Biallelic variants in dynein axonemal heavy chain 11 (\n                    <jats:italic>DNAH11<\/jats:italic>\n                    ) have been reported in association with PCD and are typically associated with normal ciliary ultrastructure. In addition, exon-level copy number variants (CNVs) in\n                    <jats:italic>DNAH11<\/jats:italic>\n                    , particularly duplications, remain poorly characterized and are prone to being overlooked by conventional sequencing workflows. We report a 9-year-old Chinese girl with recurrent lower respiratory tract infections, chronic pansinusitis, and bronchiectasis. Pulmonary function testing showed isolated small-airway dysfunction with preserved FEV1, with nasal nitric oxide (nNO) severely reduced (5.4\u00a0nL\/min). Trio whole-exome sequencing integrated with read-depth CNV analysis detected novel compound heterozygous\n                    <jats:italic>DNAH11<\/jats:italic>\n                    variants: a paternal inherited missense variant (c.6556A&amp;gt;C, p.Thr2186Pro) and a previously unreported maternally derived intragenic duplication encompassing exons 30\u201354. The missense variant was confirmed by Sanger sequencing, and the exon-level dosage gain was confirmed by qPCR. This case expands the spectrum of\n                    <jats:italic>DNAH11<\/jats:italic>\n                    variants and highlights the importance of incorporating CNV detection into exome-based diagnostic process for children with a highly suggestive PCD phenotype.\n                  <\/jats:p>","DOI":"10.3389\/fgene.2026.1857794","type":"journal-article","created":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T22:10:19Z","timestamp":1780524619000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: novel DNAH11 compound heterozygous variants including an exon 30\u201354 duplication in a child with a highly suggestive primary ciliary dyskinesia phenotype"],"prefix":"10.3389","volume":"17","author":[{"given":"Shun","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Respiratory Medicine, Children\u2019s Hospital of Soochow University","place":["Suzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuyi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Children\u2019s Hospital of Soochow University","place":["Suzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Children\u2019s Hospital of Soochow University","place":["Suzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanyu","family":"He","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Children\u2019s Hospital of Soochow University","place":["Suzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sainan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Children\u2019s Hospital of Soochow University","place":["Suzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xueyun","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Children\u2019s Hospital of Soochow University","place":["Suzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meng","family":"Lv","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Children\u2019s Hospital of Soochow University","place":["Suzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiapeng","family":"Ji","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Children\u2019s Hospital of Soochow University","place":["Suzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuqing","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Children\u2019s Hospital of Soochow University","place":["Suzhou, Jiangsu, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,4]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"695","DOI":"10.1002\/ppul.26816","article-title":"The airway microbiota in siblings with primary ciliary dyskinesia: related factors and correlation with clinical characteristics","volume":"59","author":"Ademhan Tural","year":"2024","journal-title":"Pediatr. 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