{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T17:42:45Z","timestamp":1790185365451,"version":"4.1.0"},"reference-count":23,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2022,3,3]],"date-time":"2022-03-03T00:00:00Z","timestamp":1646265600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,3,3]],"date-time":"2022-03-03T00:00:00Z","timestamp":1646265600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100005703","name":"Akdeniz \u00dcniversitesi","doi-asserted-by":"publisher","award":["TSA-2018-3522"],"award-info":[{"award-number":["TSA-2018-3522"]}],"id":[{"id":"10.13039\/501100005703","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004410","name":"T\u00fcrkiye Bilimsel ve Teknolojik Ara\u015ftirma Kurumu","doi-asserted-by":"publisher","award":["1919B01100081"],"award-info":[{"award-number":["1919B01100081"]}],"id":[{"id":"10.13039\/501100004410","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2022,7]]},"DOI":"10.1007\/s12098-022-04098-z","type":"journal-article","created":{"date-parts":[[2022,3,3]],"date-time":"2022-03-03T13:04:19Z","timestamp":1646312659000},"page":"682-691","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Novel Gene Variants Associated with Primary Ciliary Dyskinesia"],"prefix":"10.1007","volume":"89","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5887-3141","authenticated-orcid":false,"given":"Durkadin","family":"Demir Eksi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elanur","family":"Yilmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A. Erdem","family":"Basaran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gizem","family":"Erduran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Banu","family":"Nur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ercan","family":"Mihci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bulent","family":"Karadag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aysen","family":"Bingol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1536-2111","authenticated-orcid":false,"given":"Ozgul M.","family":"Alper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,3,3]]},"reference":[{"key":"4098_CR1","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1016\/j.prrv.2008.10.001","volume":"10","author":"C Hogg","year":"2009","unstructured":"Hogg C. Primary ciliary dyskinesia: when to suspect the diagnosis and how to confirm it. Paediatr Respir Rev. 2009;10:44\u201350.","journal-title":"Paediatr Respir Rev"},{"key":"4098_CR2","doi-asserted-by":"publisher","first-page":"14279","DOI":"10.1038\/ncomms14279","volume":"8","author":"C Olcese","year":"2017","unstructured":"Olcese C, Patel MP, Shoemark A, et al. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nat Commun. 2017;8:14279.","journal-title":"Nat Commun"},{"key":"4098_CR3","doi-asserted-by":"publisher","first-page":"1136","DOI":"10.1136\/adc.2006.096958","volume":"92","author":"A Bush","year":"2007","unstructured":"Bush A, Chodhari R, Collins N, et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child. 2007;92:1136\u201340.","journal-title":"Arch Dis Child"},{"key":"4098_CR4","doi-asserted-by":"publisher","first-page":"1248","DOI":"10.1183\/09031936.00001010","volume":"36","author":"CE Kuehni","year":"2010","unstructured":"Kuehni CE, Frischer T, Strippoli MP, et al. Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. Eur Respir J. 2010;36:1248\u201358.","journal-title":"Eur Respir J"},{"key":"4098_CR5","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1136\/adc.2009.158493","volume":"95","author":"C O'Callaghan","year":"2010","unstructured":"O\u2019Callaghan C, Chetcuti P, Moya E. High prevalence of primary ciliary dyskinesia in a British Asian population. Arch Dis Child. 2010;95:51\u20132.","journal-title":"Arch Dis Child"},{"key":"4098_CR6","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1136\/archdischild-2017-312902","volume":"104","author":"RA Dalrymple","year":"2019","unstructured":"Dalrymple RA, Kenia P. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia: a guideline review. Arch Dis Child Educ Pract Ed. 2019;104:265\u20139.","journal-title":"Arch Dis Child Educ Pract Ed"},{"key":"4098_CR7","doi-asserted-by":"publisher","first-page":"57","DOI":"10.1016\/j.gene.2010.11.006","volume":"473","author":"L Lee","year":"2011","unstructured":"Lee L. Mechanisms of mammalian ciliary motility: Insights from primary ciliary dyskinesia genetics. Gene. 2011;473:57\u201366.","journal-title":"Gene"},{"key":"4098_CR8","unstructured":"Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews\u00ae. Seattle (WA): University of Washington. 2019. Available at: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1122\/. Accessed on 20 Nov 2021."},{"key":"4098_CR9","doi-asserted-by":"publisher","first-page":"1601090","DOI":"10.1183\/13993003.01090-2016","volume":"49","author":"JS Lucas","year":"2017","unstructured":"Lucas JS, Barbato A, Collins SA, et al. European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. Eur Respir J. 2017;49:1601090.","journal-title":"Eur Respir J"},{"key":"4098_CR10","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1016\/S2213-2600(19)30374-1","volume":"8","author":"JS Lucas","year":"2020","unstructured":"Lucas JS, Davis SD, Omran H, Shoemark A. Primary ciliary dyskinesia in the genomics age. Lancet Respir Med. 2020;8:202\u201316.","journal-title":"Lancet Respir Med"},{"key":"4098_CR11","doi-asserted-by":"publisher","first-page":"5444","DOI":"10.1093\/nar\/19.19.5444","volume":"19","author":"DK Lahiri","year":"1991","unstructured":"Lahiri DK, Nurnberger JI Jr. A rapid non-enzymatic me thod for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res. 1991;19:5444.","journal-title":"Nucleic Acids Res"},{"key":"4098_CR12","doi-asserted-by":"publisher","first-page":"462","DOI":"10.1002\/humu.22261","volume":"34","author":"D Antony","year":"2013","unstructured":"Antony D, Becker-Heck A, Zariwala MA, et al. Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. Hum Mutat. 2013;34:462\u201372.","journal-title":"Hum Mutat"},{"key":"4098_CR13","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1038\/ng.727","volume":"43","author":"A Becker-Heck","year":"2011","unstructured":"Becker-Heck A, Zohn IE, Okabe N, et al. The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet. 2011;43:79\u201384.","journal-title":"Nat Genet"},{"key":"4098_CR14","doi-asserted-by":"crossref","unstructured":"Xiong HY, Alipanahi B, Lee LJ, et al. RNA splicing. the human splicing code reveals new insights into the genetic determinants of disease. Science. 2015;347:1254806.","DOI":"10.1126\/science.1254806"},{"key":"4098_CR15","doi-asserted-by":"publisher","first-page":"611","DOI":"10.1038\/nature07471","volume":"456","author":"H Omran","year":"2008","unstructured":"Omran H, Kobayashi D, Olbrich H, et al. Ktu\/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. Nature. 2008;456:611\u20136.","journal-title":"Nature"},{"key":"4098_CR16","doi-asserted-by":"publisher","first-page":"563","DOI":"10.1165\/rcmb.2014-0483OC","volume":"53","author":"A Frommer","year":"2015","unstructured":"Frommer A, Hjeij R, Loges NT, et al. Immunofluorescence analysis and diagnosis of primary ciliary dyskinesia with radial spoke defects. Am J Respir Cell Mol Biol. 2015;53:563\u201373.","journal-title":"Am J Respir Cell Mol Biol"},{"key":"4098_CR17","doi-asserted-by":"publisher","first-page":"1353","DOI":"10.1056\/NEJMra1711801","volume":"379","author":"DR Adams","year":"2018","unstructured":"Adams DR, Eng CM. Next-generation sequencing to diagnose suspected genetic disorders. N Engl J Med. 2018;379:1353\u201362.","journal-title":"N Engl J Med"},{"key":"4098_CR18","doi-asserted-by":"publisher","first-page":"645","DOI":"10.1016\/j.chest.2018.05.007","volume":"154","author":"A Horani","year":"2018","unstructured":"Horani A, Ferkol TW. Advances in the genetics of primary ciliary dyskinesia: clinical implications. Chest. 2018;154:645\u201352.","journal-title":"Chest"},{"key":"4098_CR19","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the american college of medical genetics and genomics and the association for molecular pathology. Genet Med. 2015;17:405\u201324.","journal-title":"Genet Med"},{"key":"4098_CR20","doi-asserted-by":"publisher","first-page":"912","DOI":"10.1016\/j.jmoldx.2016.07.002","volume":"18","author":"F Boaretto","year":"2016","unstructured":"Boaretto F, Snijders D, Salvoro C, et al. Diagnosis of primary ciliary dyskinesia by a targeted next-generation sequencing panel: molecular and clinical findings in italian patients. J Mol Diagn. 2016;18:912\u201322.","journal-title":"J Mol Diagn"},{"key":"4098_CR21","doi-asserted-by":"publisher","first-page":"585","DOI":"10.1016\/j.anl.2017.09.007","volume":"45","author":"K Takeuchi","year":"2018","unstructured":"Takeuchi K, Kitano M, Kiyotoshi H, et al. A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia. Auris Nasus Larynx. 2018;45:585\u201391.","journal-title":"Auris Nasus Larynx"},{"key":"4098_CR22","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1002\/ppul.24583","volume":"55","author":"N Emiralioglu","year":"2020","unstructured":"Emiralioglu N, Taskiran EZ, Kosukcu C, et al. Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: first results from Turkey. Pediatr Pulmonol. 2020;55:383\u201393.","journal-title":"Pediatr Pulmonol"},{"key":"4098_CR23","doi-asserted-by":"crossref","unstructured":"Xia H, Huang X, Deng S, et al. DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease. PLoS One. 2021;16:e0252786.","DOI":"10.1371\/journal.pone.0252786"}],"container-title":["Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-022-04098-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12098-022-04098-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-022-04098-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,6,17]],"date-time":"2022-06-17T05:16:31Z","timestamp":1655442991000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12098-022-04098-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,3,3]]},"references-count":23,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2022,7]]}},"alternative-id":["4098"],"URL":"https:\/\/doi.org\/10.1007\/s12098-022-04098-z","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,3,3]]},"assertion":[{"value":"7 June 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 November 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 March 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All procedures carried out in the study comply with the ethical standards of the institutional and\/or national research ethics committee [protocol number 70904504\/58 dated Feb 02, 2015] and the 1964 Helsinki Declaration and its subsequent changes or comparable standards of ethics.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics Approval"}},{"value":"Informed consent was obtained from all individuals included in this study.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to Participate"}},{"value":"None.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}