{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T19:23:10Z","timestamp":1791400990315,"version":"4.3.3"},"reference-count":26,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2020,9,27]],"date-time":"2020-09-27T00:00:00Z","timestamp":1601164800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>The goal was to study the phenotypic manifestations of c.3844T&gt;C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian Federation. Clinical manifestations and complications (the age at CF diagnosis, sweat test, pancreatic status, lung function, microbial infection, body mass index (BMI), the presence of meconium ileus (MI), diabetes, and severe liver disease) were compared in four groups: group 1\u2014patients carrying c.3844T&gt;C and severe class I or II variant in trans; group 2\u20143849+10kbC&gt;T\/F508del patients; group 3\u2014F508del\/F508del patients; and group 4\u2014patients with W1282R and \u201cmild\u201d variant in trans. Based on the analyses, W1282R with class I or II variant in trans appears to cause at least as severe CF symptoms as F508del homozygotes as reflected in the early age of diagnosis, high sweat chloride concentration, insufficient pancreatic function, and low lung function, in contrast to 3849+10kbC-T\/F508del compound heterozygotes having milder clinical phenotypes. The W1282R pathogenic variant is seemed to lead to severe disease phenotype with pancreatic insufficiency similarly to the F508del homozygous genotype.<\/jats:p>","DOI":"10.3390\/genes11101137","type":"journal-article","created":{"date-parts":[[2020,9,28]],"date-time":"2020-09-28T08:02:58Z","timestamp":1601280178000},"page":"1137","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical Presentation of the c.3844T&gt;C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients"],"prefix":"10.3390","volume":"11","author":[{"given":"Nika V.","family":"Petrova","sequence":"first","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0503-6371","authenticated-orcid":false,"given":"Nataliya Y.","family":"Kashirskaya","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanislav A.","family":"Krasovskiy","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia"},{"name":"Pulmonology Research Institute under FMBA of Russia, Orekhoviy boulevard, 28, 115682 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena L.","family":"Amelina","sequence":"additional","affiliation":[{"name":"Pulmonology Research Institute under FMBA of Russia, Orekhoviy boulevard, 28, 115682 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6395-0407","authenticated-orcid":false,"given":"Elena I.","family":"Kondratyeva","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0972-5118","authenticated-orcid":false,"given":"Andrey V.","family":"Marakhonov","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatyana A.","family":"Vasilyeva","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Y.","family":"Voronkova","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2206-1528","authenticated-orcid":false,"given":"Victoria D.","family":"Sherman","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgeny K.","family":"Ginter","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergey I.","family":"Kutsev","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3586-3458","authenticated-orcid":false,"given":"Rena A.","family":"Zinchenko","sequence":"additional","affiliation":[{"name":"Research Centre for Medical Genetics, Russian Federation, Moskvorechie St., 1, 115522 Moscow, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2020,9,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1016\/j.pcl.2016.04.002","article-title":"Molecular Genetics of Cystic Fibrosis Transmembrane Conductance Regulator: Genotype and Phenotype","volume":"63","author":"Sosnay","year":"2016","journal-title":"Pediatr. 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