{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T11:48:48Z","timestamp":1790768928756,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,3,3]],"date-time":"2015-03-03T00:00:00Z","timestamp":1425340800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Guangxi Key Laboratory of Metabolic Diseases Research","award":["13-051-31"],"award-info":[{"award-number":["13-051-31"]}]},{"name":"Basic science foundation of Shenzhen S&T program","award":["20130194"],"award-info":[{"award-number":["20130194"]}]},{"name":"Science and Technology Innovation Fund of Shenzhen City","award":["JCYJ20130402092657769"],"award-info":[{"award-number":["JCYJ20130402092657769"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Respiratory J"],"published-print":{"date-parts":[[2016,9]]},"abstract":"Abstract<\/jats:title>\n \n Background and Aims<\/jats:title>\n \n Primary ciliary dyskinesia (\n PCD<\/jats:styled-content>\n ) is a rare, genetically heterogeneous disorder. Genetic defects affecting motility of cilia and flagella cause chronic destructive airway disease, situs inversus and, frequently, male infertility in\n PCD<\/jats:styled-content>\n . To date, although several genes have been implicated in\n PCD<\/jats:styled-content>\n , the genetic bases of most cases of\n PCD<\/jats:styled-content>\n remain elusive.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n By applying a whole\u2010exome sequencing strategy, we reported a case of\n PCD<\/jats:styled-content>\n carrying a novel mutant alleles in\n CCDC<\/jats:styled-content>\n 40 gene, and did literature review.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n A 36\u2010year\u2010old nonsmoking\n C<\/jats:styled-content>\n hinese man suffered from chronic cough since childhood and an 8\u2010year history of primary infertility. Lung biopsy showed respiratory bronchiolitis. Chest images showed bronchiectasis and situs inversus. Semen analysis showed high sperm counts and poor sperm motility. Transmission electron microscopy (\n TEM<\/jats:styled-content>\n ) of cilia cross\u2010sections showed ultrastructural defects, including inner dynein arms (\n IDA<\/jats:styled-content>\n ) defect and axonemal disorganization. To identify gene mutations that cause\n PCD<\/jats:styled-content>\n , we performed exome sequencing to analyze genome of this patient, and discovered a previously uncharacterized mutant alleles (\n NM<\/jats:styled-content>\n _001243342.1:c.2609G>A; p. R870H) in\n CCDC<\/jats:styled-content>\n 40 gene. In addition, we summarize the\n PCD<\/jats:styled-content>\n disease\u2010causing genes and\n CCDC<\/jats:styled-content>\n 40 mutant sites based on current literature.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n We identified a novel mutant alleles in\n CCDC<\/jats:styled-content>\n 40 gene, which altered the protein sequence and resulted in the ultrastructural defects in the microtubule structure of cilia. Thereby, these defects lead to the patient with bronchiectasis, bronchiolitis and infertility.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/crj.12268","type":"journal-article","created":{"date-parts":[[2015,1,26]],"date-time":"2015-01-26T04:15:58Z","timestamp":1422245758000},"page":"614-621","source":"Crossref","is-referenced-by-count":25,"title":["CCDC<\/scp>\n 40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature"],"prefix":"10.1111","volume":"10","author":[{"given":"Weiguo","family":"Sui","sequence":"first","affiliation":[{"name":"Guangxi Key Laboratory of Metabolic Diseases Research Guilin Guangxi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xianliang","family":"Hou","sequence":"additional","affiliation":[{"name":"Guangxi Key Laboratory of Metabolic Diseases Research Guilin Guangxi China"},{"name":"College of Life Science Guangxi Normal University Guilin Guangxi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenti","family":"Che","sequence":"additional","affiliation":[{"name":"Guangxi Key Laboratory of Metabolic Diseases Research Guilin Guangxi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minglin","family":"Ou","sequence":"additional","affiliation":[{"name":"Guangxi Key Laboratory of Metabolic Diseases Research Guilin Guangxi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoping","family":"Sun","sequence":"additional","affiliation":[{"name":"Lab. Center Shenzhen Pingshan People's Hospital Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shengxing","family":"Huang","sequence":"additional","affiliation":[{"name":"Clinical Medical Research Center the Second Clinical Medical College of Jinan University (Shenzhen People's Hospital) Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fuhua","family":"Liu","sequence":"additional","affiliation":[{"name":"Guangxi Key Laboratory of Metabolic Diseases Research Guilin Guangxi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peng","family":"Chen","sequence":"additional","affiliation":[{"name":"Guangxi Key Laboratory of Metabolic Diseases Research Guilin Guangxi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaolian","family":"Wei","sequence":"additional","affiliation":[{"name":"Guangxi Key Laboratory of Metabolic Diseases Research Guilin Guangxi China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yong","family":"Dai","sequence":"additional","affiliation":[{"name":"Guangxi Key Laboratory of Metabolic Diseases Research Guilin Guangxi China"},{"name":"Clinical Medical Research Center the Second Clinical Medical College of Jinan University (Shenzhen People's Hospital) Shenzhen Guangdong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,3]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.physiol.69.040705.141236"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2008.10.001"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273308"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.014084"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.70057"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200429"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.physiol.69.040705.141301"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hcu063"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.003"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2012.12.072"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.03.018"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.11.003"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.11.002"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1106"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2277"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.022"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22261"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.016"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2533"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.727"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.726"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2006.07.012"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pbio.0030292"}],"container-title":["The Clinical Respiratory Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcrj.12268","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/crj.12268","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,23]],"date-time":"2023-09-23T08:41:33Z","timestamp":1695458493000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/crj.12268"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,3,3]]},"references-count":23,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2016,9]]}},"alternative-id":["10.1111\/crj.12268"],"URL":"https:\/\/doi.org\/10.1111\/crj.12268","archive":["Portico"],"relation":{},"ISSN":["1752-6981","1752-699X"],"issn-type":[{"value":"1752-6981","type":"print"},{"value":"1752-699X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,3,3]]}}}