{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,7]],"date-time":"2026-07-07T03:54:52Z","timestamp":1783396492492,"version":"3.54.6"},"reference-count":19,"publisher":"MDPI AG","issue":"23","license":[{"start":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T00:00:00Z","timestamp":1764633600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Comprehensive analysis of gene-phenotype correlations in cystic fibrosis and primary ciliary dyskinesia","award":["122032300396-1"],"award-info":[{"award-number":["122032300396-1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Primary ciliary dyskinesia (PCD) is a rare hereditary disorder belonging to the group of ciliopathies, with autosomal recessive, autosomal dominant, and, less frequently, X-linked inheritance patterns. The aim of this study was to investigate the genetic heterogeneity of the Russian population of PCD patients based on national registry data. The study included patients with PCD confirmed by molecular genetic testing. Quantitative data were analyzed using non-parametric statistical methods. Differences were considered statistically significant at p &lt; 0.05. The study included 109 patients with PCD. Molecular genetic testing identified pathogenic variants in 29 autosomal recessive genes. The analysis of pathogenic variant distribution in the Russian PCD cohort revealed the highest number of changes in the DNAH5 and DNAH11 genes. 26 genetic variants in 13 genes were identified for the first time in the Russian population. Variants in the DNAH5 gene were significantly more frequent in Kartagener\u2019s syndrome (KS) patients (32\/55%) compared to those without KS (11\/21.5%) (\u03c72 = 12.8; p = 0.0004; OR = 4.48). Preliminary data indicate that the frequency spectrum of DNAH5 and DNAH11 genes in Russian patients is similar to international trends. Additionally, there is an accumulation of pathogenic variants in the DNAH5, DNAH11, CCDC39, and CFAP300 genes.<\/jats:p>","DOI":"10.3390\/ijms262311674","type":"journal-article","created":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T15:03:13Z","timestamp":1764687793000},"page":"11674","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia"],"prefix":"10.3390","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6395-0407","authenticated-orcid":false,"given":"Elena I.","family":"Kondratyeva","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics, 1 Moskvorechye St., Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5999-2150","authenticated-orcid":false,"given":"Sergey N.","family":"Avdeev","sequence":"additional","affiliation":[{"name":"Pulmonology Department, Sechenov First Moscow State Medical University (Sechenov University), Healthcare Ministry of Russia, Trubetskaya St. 8, Build. 2, Moscow 119991, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana A.","family":"Kyian","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 1 Moskvorechye St., Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1285-9093","authenticated-orcid":false,"given":"Oksana P.","family":"Ryzhkova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 1 Moskvorechye St., Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8814-5532","authenticated-orcid":false,"given":"Yuliya L.","family":"Melyanovskaya","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 1 Moskvorechye St., Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria V.","family":"Zabnenkova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 1 Moskvorechye St., Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8674-7230","authenticated-orcid":false,"given":"Maria V.","family":"Bulakh","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 1 Moskvorechye St., Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zamira M.","family":"Merzhoeva","sequence":"additional","affiliation":[{"name":"Pulmonology Department, Sechenov First Moscow State Medical University (Sechenov University), Healthcare Ministry of Russia, Trubetskaya St. 8, Build. 2, Moscow 119991, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-6612-6695","authenticated-orcid":false,"given":"Artem V.","family":"Bukhonin","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 1 Moskvorechye St., Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalia V.","family":"Trushenko","sequence":"additional","affiliation":[{"name":"Pulmonology Department, Sechenov First Moscow State Medical University (Sechenov University), Healthcare Ministry of Russia, Trubetskaya St. 8, Build. 2, Moscow 119991, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1254-6863","authenticated-orcid":false,"given":"Baina B.","family":"Lavginova","sequence":"additional","affiliation":[{"name":"Pulmonology Department, Sechenov First Moscow State Medical University (Sechenov University), Healthcare Ministry of Russia, Trubetskaya St. 8, Build. 2, Moscow 119991, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-1588-8798","authenticated-orcid":false,"given":"Daria O.","family":"Zhukova","sequence":"additional","affiliation":[{"name":"Pulmonology Department, Sechenov First Moscow State Medical University (Sechenov University), Healthcare Ministry of Russia, Trubetskaya St. 8, Build. 2, Moscow 119991, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey I.","family":"Kutsev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, 1 Moskvorechye St., Moscow 115522, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,12,2]]},"reference":[{"key":"ref_1","unstructured":"(2025, August 25). Online Mendelian Inheritance in Man, OMIM\u00ae. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. Available online: https:\/\/omim.org\/."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2301769","DOI":"10.1183\/13993003.01769-2023","article-title":"Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations","volume":"64","author":"Raidt","year":"2024","journal-title":"Eur. Respir. J."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/pr.2016.263","article-title":"Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: A systematic review and meta-analysis","volume":"81","author":"Kouis","year":"2017","journal-title":"Pediatr. Res."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1136\/archdischild-2013-304831","article-title":"Diagnosis and management of primary ciliary dyskinesia","volume":"99","author":"Lucas","year":"2014","journal-title":"Arch. Dis. Child."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"731","DOI":"10.18093\/0869-0189-2023-33-6-731-738","article-title":"Classification of primary ciliary dyskinesia","volume":"33","author":"Kondratyeva","year":"2023","journal-title":"Pulmonologiya"},{"key":"ref_6","doi-asserted-by":"crossref","unstructured":"Shoemark, A., Goutaki, M., Kinghorn, B., Ardura-Garcia, C., Baz-Red\u00f3n, N., Chilvers, M., Davis, S.D., De Brandt, J., Dell, S., and Dhar, R. (2025). European Respiratory Society and American Thoracic Society guidelines for the diagnosis of Primary Ciliary Dyskinesia. Eur. Respir. J., 2500745.","DOI":"10.1183\/13993003.00745-2025"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1164\/rccm.201805-0819ST","article-title":"Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline","volume":"197","author":"Shapiro","year":"2018","journal-title":"Am. J. Respir. Crit. Care Med."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1601090","DOI":"10.1183\/13993003.01090-2016","article-title":"European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia","volume":"49","author":"Lucas","year":"2017","journal-title":"Eur. Respir. J."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"459","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","year":"2022","journal-title":"Lancet Respir. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","article-title":"VarSome: The human genomic variant search engine","volume":"35","author":"Kopanos","year":"2019","journal-title":"Bioinformatics"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1186\/s13023-022-02427-1","article-title":"Clinical and genetic spectrum of primary ciliary dyskinesia in Chinese patients: A systematic review","volume":"17","author":"Peng","year":"2022","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/j.ajhg.2012.08.016","article-title":"Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry","volume":"91","author":"Olbrich","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1016\/j.ccm.2016.04.008","article-title":"Primary Ciliary Dyskinesia","volume":"37","author":"Knowles","year":"2016","journal-title":"Clin. Chest Med."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1103","DOI":"10.1183\/13993003.01551-2015","article-title":"PICADAR: A diagnostic predictive tool for primary ciliary dyskinesia","volume":"47","author":"Behan","year":"2016","journal-title":"Eur. Respir. J."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/humu.22981","article-title":"HGVS Recommendations for the Description of Sequence Variants: 2016 Update","volume":"37","author":"Dalgleish","year":"2016","journal-title":"Hum. Mutat."},{"key":"ref_16","unstructured":"Illumina (2024). BaseSpace Sequence Hub, Illumina, Inc.. Available online: https:\/\/basespace.illumina.com."},{"key":"ref_17","first-page":"4","article-title":"Guidelines for the interpretation of massive parallel sequencing variants","volume":"16","author":"Ryzhkova","year":"2017","journal-title":"Med. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"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","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Demchenko, A.G., Kyian, T.A., Kondratyeva, E.I., Bragina, E.E., Ryzhkova, O.P., Veiko, R.V., Nazarova, A.G., Chernykh, V.B., Smirnikhina, S.A., and Kutsev, S.I. (2025). CFAP300 Loss-of-Function Mutations with Primary Ciliary Dyskinesia: Evidence from Ex Vivo and ALI Cultures. Int. J. Mol. Sci., 26.","DOI":"10.3390\/ijms26157655"}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/23\/11674\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T15:03:41Z","timestamp":1764687821000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/26\/23\/11674"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,2]]},"references-count":19,"journal-issue":{"issue":"23","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["ijms262311674"],"URL":"https:\/\/doi.org\/10.3390\/ijms262311674","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12,2]]}}}