{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,24]],"date-time":"2024-04-24T00:40:29Z","timestamp":1713919229557},"reference-count":27,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,4,23]]},"DOI":"10.7759\/cureus.58854","type":"journal-article","created":{"date-parts":[[2024,4,23]],"date-time":"2024-04-23T23:47:35Z","timestamp":1713916055000},"source":"Crossref","is-referenced-by-count":0,"title":["Two Japanese Pediatric Patients With Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in the CCNO gene"],"prefix":"10.7759","author":[{"given":"Yifei","family":"Xu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koki","family":"Ueda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoki","family":"Nishikido","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsubasa","family":"Matsumoto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazuhiko","family":"Takeuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","article-title":"Primary Ciliary Dyskinesia","author":"Zariwala MA","year":"2019","unstructured":"Zariwala MA, Knowles MR, Leigh MW. Primary Ciliary Dyskinesia. GeneReviews\u00ae [Internet]. Adam MP, Feldman J, Mirzaa GM, et al. (ed): Seattle (WA), University of Washington, Seattle; 2019."},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(21)00453-7","article-title":"The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis","volume":"10","author":"Hannah WB","year":"2022","unstructured":"Hannah WB, Seifert BA, Truty R, et al.. The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis. Lancet Respir Med. 2022, 10:459-68. 10.1016\/S2213-2600(21)00453-7","journal-title":"Lancet Respir Med"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1137","article-title":"Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population","volume":"8","author":"Takeuchi K","year":"2020","unstructured":"Takeuchi K, Xu Y, Kitano M, et al.. Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population. Mol Genet Genomic Med. 2020, 8:e1137. 10.1002\/mgg3.1137","journal-title":"Mol Genet Genomic Med"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.anl.2017.09.007","article-title":"A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia","volume":"45","author":"Takeuchi K","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, 45:585-91. 10.1016\/j.anl.2017.09.007","journal-title":"Auris Nasus Larynx"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-023-01142-4","article-title":"Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis","volume":"68","author":"Xu Y","year":"2023","unstructured":"Xu Y, Feng G, Yano T, et al.. Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis. J Hum Genet. 2023, 68:455-61. 10.1038\/s10038-023-01142-4","journal-title":"J Hum Genet"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2961","article-title":"Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia","volume":"46","author":"Wallmeier J","year":"2014","unstructured":"Wallmeier J, Al-Mutairi DA, Chen CT, et al.. Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Genet. 2014, 46:646-51. 10.1038\/ng.2961","journal-title":"Nat Genet"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.12998\/wjcc.v10.i25.9148","article-title":"CCNO mutation as a cause of primary ciliary dyskinesia: A case report","volume":"10","author":"Zhang YY","year":"2022","unstructured":"Zhang YY, Lou Y, Yan H, Tang H. CCNO mutation as a cause of primary ciliary dyskinesia: A case report. World J Clin Cases. 2022, 10:9148-55. 10.12998\/wjcc.v10.i25.9148","journal-title":"World J Clin Cases"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.15252\/embj.201490805","article-title":"Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells","volume":"34","author":"Funk MC","year":"2015","unstructured":"Funk MC, Bera AN, Menchen T, et al.. Cyclin O (Ccno) functions during deuterosome-mediated centriole amplification of multiciliated cells. EMBO J. 2015, 34:1078-89. 10.15252\/embj.201490805","journal-title":"EMBO J"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.3.2.207","article-title":"Reconstructions of centriole formation and ciliogenesis in mammalian lungs","volume":"3","author":"Sorokin SP","year":"1968","unstructured":"Sorokin SP. Reconstructions of centriole formation and ciliogenesis in mammalian lungs. J Cell Sci. 1968, 3:207-30. 10.1242\/jcs.3.2.207","journal-title":"J Cell Sci"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.10.036","article-title":"Centrioles, centrosomes, and cilia in health and disease","volume":"139","author":"Nigg EA","year":"2009","unstructured":"Nigg EA, Raff JW. Centrioles, centrosomes, and cilia in health and disease. Cell. 2009, 139:663-78. 10.1016\/j.cell.2009.10.036","journal-title":"Cell"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5418","article-title":"MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia","volume":"5","author":"Boon M","year":"2014","unstructured":"Boon M, Wallmeier J, Ma L, et al.. MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. Nat Commun. 2014, 5:4418. 10.1038\/ncomms5418","journal-title":"Nat Commun"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1080\/01913123.2017.1362088","article-title":"Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure","volume":"41","author":"Shapiro AJ","year":"2017","unstructured":"Shapiro AJ, Leigh MW. Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure. Ultrastruct Pathol. 2017, 41:373-85. 10.1080\/01913123.2017.1362088","journal-title":"Ultrastruct Pathol"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22957","article-title":"Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis","volume":"37","author":"Amirav I","year":"2016","unstructured":"Amirav I, Wallmeier J, Loges NT, et al.. Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis. Hum Mutat. 2016, 37:396-405. 10.1002\/humu.22957","journal-title":"Hum Mutat"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccm.2016.04.008","article-title":"Primary Ciliary Dyskinesia","volume":"37","author":"Knowles MR","year":"2016","unstructured":"Knowles MR, Zariwala M, Leigh M. Primary Ciliary Dyskinesia. Clin Chest Med. 2016, 37:449-61. 10.1016\/j.ccm.2016.04.008","journal-title":"Clin Chest Med"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2020.05.052","article-title":"Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China","volume":"225","author":"Guo Z","year":"2020","unstructured":"Guo Z, Chen W, Wang L, Qian L. Clinical and Genetic Spectrum of Children with Primary Ciliary Dyskinesia in China. J Pediatr. 2020, 225:157-165.e5. 10.1016\/j.jpeds.2020.05.052","journal-title":"J Pediatr"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.79","article-title":"Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population","volume":"23","author":"Casey JP","year":"2015","unstructured":"Casey JP, McGettigan PA, Healy F, et al.. Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. Eur J Hum Genet. 2015, 23:210-7. 10.1038\/ejhg.2014.79","journal-title":"Eur J Hum Genet"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-08510-z","article-title":"An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families","volume":"7","author":"Guo T","year":"2017","unstructured":"Guo T, Tan ZP, Chen HM, et al.. An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families. Sci Rep. 2017, 7:7905. 10.1038\/s41598-017-08510-z","journal-title":"Sci Rep"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.1003-9406.2019.03.008","article-title":"[Genetic diagnosis of a case with primary ciliary dyskinesia type 29 by next generation sequencing]","volume":"36","author":"Shen N","year":"2019","unstructured":"Shen N, Meng C, Liu Y, Gai Z. [Genetic diagnosis of a case with primary ciliary dyskinesia type 29 by next generation sequencing]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019, 36:225-228. 10.3760\/cma.j.issn.1003-9406.2019.03.008","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.24583","article-title":"Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey","volume":"55","author":"Emiralio\u011flu N","year":"2020","unstructured":"Emiralio\u011flu N, Ta\u015fk\u0131ran EZ, Ko\u015fukcu C, et al.. Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey. Pediatr Pulmonol. 2020, 55:383-393. 10.1002\/ppul.24583","journal-title":"Pediatr Pulmonol"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2021.02.006","article-title":"Clinical and genetic spectrum of children with primary ciliary dyskinesia in china","volume":"159","author":"Guan Y","year":"2021","unstructured":"Guan Y, Yang H, Yao X, et al.. Clinical and genetic spectrum of children with primary ciliary dyskinesia in china. Chest. 2021, 159:1768-1781. 10.1016\/j.chest.2021.02.006","journal-title":"Chest"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.25440","article-title":"Primary ciliary dyskinesia due to CCNO mutations-A genotype-phenotype correlation contribution","volume":"56","author":"Henriques AR","year":"2021","unstructured":"Henriques AR, Constant C, Descal\u00e7o A, et al.. Primary ciliary dyskinesia due to CCNO mutations-A genotype-phenotype correlation contribution. Pediatr Pulmonol. 2021, 56:2776-2779. 10.1002\/ppul.25440","journal-title":"Pediatr Pulmonol"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14067","article-title":"Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport","volume":"100","author":"Ma C","year":"2021","unstructured":"Ma C, Wu H, Zhu D, et al.. Bi-allelic mutations in MCIDAS and CCNO cause human infertility associated with abnormal gamete transport. Clin Genet. 2021, 100:731-742. 10.1111\/cge.14067","journal-title":"Clin Genet"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1007\/s12098-023-04543-7","article-title":"Mutations in CCNO result in primary ciliary dyskinesia complicated with diffuse bronchiolitis","volume":"90","author":"Wang LN","year":"2023","unstructured":"Wang LN, Gao LW, Liu XY, Xu BP. Mutations in CCNO result in primary ciliary dyskinesia complicated with diffuse bronchiolitis. Indian J Pediatr. 2023, 90:522. 10.1007\/s12098-023-04543-7","journal-title":"Indian J Pediatr"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.2147\/PGPM.S406445","article-title":"Case Report: A novel homozygous mutation of cyclin o gene mutation in primary ciliary dyskinesia with short stature","volume":"16","author":"Gong D","year":"2023","unstructured":"Gong D, Tang Q, Yan LJ, et al.. Case Report: A novel homozygous mutation of cyclin o gene mutation in primary ciliary dyskinesia with short stature. Pharmgenomics Pers Med. 2023, 16:443-448. 10.2147\/PGPM.S406445","journal-title":"Pharmgenomics Pers Med"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.26604","article-title":"Early genetic analysis by next-generation sequencing improves diagnosis of primary ciliary dyskinesia","volume":"58","author":"Petrarca L","year":"2023","unstructured":"Petrarca L, De Luca A, Nenna R, et al.. Early genetic analysis by next-generation sequencing improves diagnosis of primary ciliary dyskinesia. Pediatr Pulmonol. 2023, 58:2950-2953. 10.1002\/ppul.26604","journal-title":"Pediatr Pulmonol"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.26607","article-title":"A novel homozygous frameshift CCNO variant presenting with primary ciliary dyskinesia and selective IgM deficiency","volume":"58","author":"Celiksoy MH","year":"2023","unstructured":"Celiksoy MH, Turan I, Gezdirici A, et al.. A novel homozygous frameshift CCNO variant presenting with primary ciliary dyskinesia and selective IgM deficiency. Pediatr Pulmonol. 2023, 58:3333-3336. 10.1002\/ppul.26607","journal-title":"Pediatr Pulmonol"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.7759\/cureus.52237","article-title":"The First case of a homozygous CCNO NM 021147.4 mutation associated with primary ciliary dyskinesia in two Indian siblings","volume":"16","author":"Alhalabi O","year":"2024","unstructured":"Alhalabi O, Abdulwahab A, Thomas M. The First case of a homozygous CCNO NM 021147.4 mutation associated with primary ciliary dyskinesia in two Indian siblings. Cureus. 2024, 16:52237. 10.7759\/cureus.52237","journal-title":"Cureus"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/229903-two-japanese-pediatric-patients-with-primary-ciliary-dyskinesia-caused-by-loss-of-function-variants-in-the-ccno-gene","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,23]],"date-time":"2024-04-23T23:48:44Z","timestamp":1713916124000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/229903-two-japanese-pediatric-patients-with-primary-ciliary-dyskinesia-caused-by-loss-of-function-variants-in-the-ccno-gene"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,23]]},"references-count":27,"URL":"https:\/\/doi.org\/10.7759\/cureus.58854","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,4,23]]}}}