{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T05:26:50Z","timestamp":1793424410345,"version":"4.5.0"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,6,27]],"date-time":"2019-06-27T00:00:00Z","timestamp":1561593600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100011022","name":"Vertex Pharmaceuticals","doi-asserted-by":"publisher","award":["CG-2015-104643"],"award-info":[{"award-number":["CG-2015-104643"]}],"id":[{"id":"10.13039\/100011022","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The spectrum and frequencies of CFTR mutations causing Cystic fibrosis (CF) varies among different populations in Europe, and beyond.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We identified 98.9% of all <jats:italic>CFTR<\/jats:italic> mutations in a representative cohort of 140 CF patients comprising 107 Bulgarian\u2010 (BG), 17 BG Turk\u2010, and 16 BG Roma cases. The compiled clinical and genotype dataset includes 110 previously analyzed patients with 30 cases currently analyzed for rare <jats:italic>CFTR<\/jats:italic> variants by massively parallel sequencing of the entire <jats:italic>CFTR<\/jats:italic> coding region and adjacent introns combined with the analysis of intra\u2010<jats:italic>CFTR<\/jats:italic> rearrangements.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Altogether 53 different mutations, of which 15 newly identified in the BG CF population, were observed. Comparison of clinical and laboratory data between individual BG ethnic groups proved that BG Roma have a more severe nutritional status and are younger than other CF patients, as well as that the spectrum mutations differs between them.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This collaborative study improves genetic counselling in BG, facilitates introduction of multitier CF neonatal screening and fosters public health measures for improvement of care in the Roma CF population.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.696","type":"journal-article","created":{"date-parts":[[2019,6,27]],"date-time":"2019-06-27T09:45:32Z","timestamp":1561628732000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Identification of 99% of <i>CFTR<\/i> gene mutations in Bulgarian\u2010, Bulgarian Turk\u2010, and Roma cystic fibrosis patients"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8168-742X","authenticated-orcid":false,"given":"Guergana","family":"Petrova","sequence":"first","affiliation":[{"name":"Pediatric Clinic, University Hospital Alexandrovska Sofia Bulgaria"},{"name":"Pediatric Department Medical University Sofia Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadezhda","family":"Yaneva","sequence":"additional","affiliation":[{"name":"University Specialized Hospital for Active Treatment in Obstetrics and Gynecology, 'Maichin dom', National Genetic Laboratory Sofia Bulgaria"},{"name":"Medical University Sofia Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Hrbkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics University Hospital Motol Prague Czech Republic"},{"name":"Faculty of Medicine of Charles University Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Malgorzata","family":"Libik","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics University Hospital Motol Prague Czech Republic"},{"name":"Faculty of Medicine of Charles University Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexey","family":"Savov","sequence":"additional","affiliation":[{"name":"University Specialized Hospital for Active Treatment in Obstetrics and Gynecology, 'Maichin dom', National Genetic Laboratory Sofia Bulgaria"},{"name":"Medical University Sofia Sofia Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"suffix":"Jr.","given":"Milan","family":"Macek","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics University Hospital Motol Prague Czech Republic"},{"name":"Faculty of Medicine of Charles University Prague Czech Republic"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,6,27]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050398"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10041"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2018.02.006"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2007.04.001"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2008.05.005"},{"key":"e_1_2_7_7_1","unstructured":"Georgiev Z. Tomova I. Grekova M. &Kanev K.(2001).The ethnic dimensions of poverty in Bulgaria 1998. The World Bank archives Retrieved fromhttp:\/\/siteresources.worldbank.org\/EXTGLDEVLEARN\/Resources\/IlonaTomova.pdf"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1243518"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.2478\/jomb-2014-0055"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00067.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2012.12.002"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2017.04.001"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2010.06.001"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.prrv.2018.04.003"},{"key":"e_1_2_7_15_1","unstructured":"National Centre of Public Health and Analyses. (2014).National program for improving mothers' and children's health 2014\u20102020 Ministry of Health on Bulgaria. Retrieved fromhttp:\/\/ncpha.government.bg\/index.php?option=com_content&view=article&xml:id=1395:nac-prog-maichinozdrave&catxml:id=107:nac-plan-progr&Itemxml:id=527&xml:lang=bg(in Bulgarian)."},{"key":"e_1_2_7_16_1","unstructured":"National Statistical Institute of the Republic of Bulgaria. (2011).National census data 2011. Retrieved fromwww.nsi.bg\/census2011\/PDOCS2\/Census2011final_en.pdf"},{"key":"e_1_2_7_17_1","unstructured":"Orenti A. Zolin A. vanRens J. Fox A. Iansa P. Jung A. \u2026Naehrlich L.(2018).2016 ECFSPR Annual Report. 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