{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,26]],"date-time":"2026-07-26T15:02:29Z","timestamp":1785078149171,"version":"3.55.0"},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T00:00:00Z","timestamp":1784592000000},"content-version":"vor","delay-in-days":20,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,7,1]],"date-time":"2026-07-01T00:00:00Z","timestamp":1782864000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82370309"],"award-info":[{"award-number":["82370309"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disorder typically inherited in an autosomal recessive pattern. Pseudo\u2010dominant inheritance is exceptionally uncommon and remains poorly characterized in PCD.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted a clinical and genetic study of a non\u2010consanguineous Chinese PCD pedigree with four affected individuals across two generations. Whole exome sequencing and Sanger sequencing were performed to identify pathogenic variants.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Two variants in\n                      <jats:italic>DNAAF1<\/jats:italic>\n                      , c.1930A&gt;T (p.Arg644Ter) and c.1022_1023del (p.Gln341ArgfsTer10), were identified and shown to co\u2010segregate with the disease in a pseudo\u2010dominant pattern. The proband, her brother, and her two naturally conceived sons were all affected, with her parents and husband being unaffected carriers. Transmission electron microscopy revealed absence of both outer and inner dynein arms, and high\u2010speed video analysis demonstrated immotile or severely reduced ciliary beating. Intrafamilial phenotypic variability was notable, including distinct laterality defects (situs inversus, heterotaxy, and situs solitus) and varying degrees of pulmonary involvement.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our report provides the first description of pseudo\u2010dominant inheritance in PCD and expands the knowledge of the disease by offering detailed clinical and ciliary phenotyping.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/mgg3.70264","type":"journal-article","created":{"date-parts":[[2026,7,22]],"date-time":"2026-07-22T05:14:22Z","timestamp":1784697262000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Clinical and Genetic Study of a Pseudo\u2010Dominant Primary Ciliary Dyskinesia Pedigree: The First DNAAF1\u2010Associated Family Reported in Chinese Population"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2821-1294","authenticated-orcid":false,"given":"Zhuoyao","family":"Guo","sequence":"first","affiliation":[{"name":"Respirology Department Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"Li","sequence":"additional","affiliation":[{"name":"Respirology Department Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaoli","family":"Jiang","sequence":"additional","affiliation":[{"name":"Respirology Department Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weicheng","family":"Chen","sequence":"additional","affiliation":[{"name":"Cardiovascular Center Children's Hospital of Fudan University  Shanghai China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,7,21]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/ped.14321"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1183\/23120541.00005-2020"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106424"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2021-107775"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s40291-025-00801-w"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s43657-023-00130-0"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201803-0548OC"},{"issue":"6","key":"e_1_2_13_9_1","first-page":"386","article-title":"A Pseudo\u2010Dominant Form of Gitelman's Syndrome","volume":"4","author":"Faille R.","year":"2011","journal-title":"NDT Plus"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells13110974"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.11.008"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2020.05.052"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(21)00453-7"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24216"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx422"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.3263-23"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.4168\/aair.2023.15.6.757"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semcdb.2020.11.007"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.10.018"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/mdc3.13694"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1534\/g3.116.033696"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-015-2394-8"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-020-60589-z"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00052014"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00745-2025"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.26536"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2020.11562"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-025-03661-z"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70264","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.70264","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70264","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,26]],"date-time":"2026-07-26T14:50:18Z","timestamp":1785077418000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.70264"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7]]},"references-count":28,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"alternative-id":["10.1002\/mgg3.70264"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.70264","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7]]},"assertion":[{"value":"2025-09-18","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-21","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70264"}}