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To date, pathogenic variants in more than 50 genes responsible for motile cilia structure and assembly have been reported in such patients. While multiple population-specific mutations have been described in PCD cohorts from different countries, the data on genetic spectrum of PCD in Russian population are still extremely limited.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The present study provides a comprehensive clinical and genetic characterization of 21 Russian families with PCD living in various country regions. Anomalies of ciliary beating in patients` respiratory epithelial cells were confirmed by high-speed video microscopy. In the most cases, custom-designed panel sequencing allowed to uncover causative variants in well-known or rarely mentioned PCD-related genes, including <jats:italic>DNAH5<\/jats:italic>, <jats:italic>DNAH11<\/jats:italic>, <jats:italic>CFAP300<\/jats:italic>, <jats:italic>LRRC6<\/jats:italic>, <jats:italic>ZMYND10<\/jats:italic>, <jats:italic>CCDC103<\/jats:italic>, <jats:italic>HYDIN<\/jats:italic>, <jats:italic>ODAD4<\/jats:italic>, <jats:italic>DNAL1<\/jats:italic>, and <jats:italic>OFD1<\/jats:italic>. The variations comprised common mutations, as well as novel genetic variants, some of which probably specific for Russian patients. Additional targeted analysis of mRNA transcripts from ciliated cells enabled us to specify functional effects of newly identified genetic variants in <jats:italic>DNAH5<\/jats:italic> (c.2052+3G&gt;T, c.3599-2A&gt;G), <jats:italic>HYDIN<\/jats:italic> (c.10949-2A&gt;G, c.1797C&gt;G), and <jats:italic>ZMYND10<\/jats:italic> (c.510+1G&gt;C) on splicing process. In particular, the splice site variant c.2052+3G&gt;T, detected in four unrelated families, resulted in skipping of exon 14 in DNAH5 transcripts and, according to haplotype analysis of affected probands, was proposed as an ancestral founder mutation in Udmurt population.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The reported data provide a vital insight into genetic background of primary ciliary dyskinesia in the Russian population. The findings clearly illustrate the utility of gene panel sequencing coupled with transcriptional analysis in identification and clinical interpretation of novel genetic variants.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03318-3","type":"journal-article","created":{"date-parts":[[2024,8,23]],"date-time":"2024-08-23T23:25:55Z","timestamp":1724455555000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Characterization of pathogenic genetic variants in Russian patients with primary ciliary dyskinesia using gene panel sequencing and transcript analysis"],"prefix":"10.1186","volume":"19","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2029-1197","authenticated-orcid":false,"given":"Anna","family":"Zlotina","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana","family":"Barashkova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey","family":"Zhuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rostislav","family":"Skitchenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dmitrii","family":"Usoltsev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Polina","family":"Sokolnikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mykyta","family":"Artomov","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana","family":"Alekseenko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatiana","family":"Simanova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Goloborodko","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olga","family":"Berleva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Kostareva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,8,23]]},"reference":[{"key":"3318_CR1","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1513\/AnnalsATS.201511-748OC","volume":"13","author":"MW Leigh","year":"2016","unstructured":"Leigh MW, Ferkol TW, Davis SD, Lee HS, Rosenfeld M, Dell SD, et al. 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