{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T13:41:02Z","timestamp":1753882862679,"version":"3.41.2"},"reference-count":19,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"name":"Shota Rustaveli National Science Foundation of Georgia","award":["FR-22-2601"],"award-info":[{"award-number":["FR-22-2601"]}]},{"name":"Centogene GmbH","award":["NCT02710383"],"award-info":[{"award-number":["NCT02710383"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:p> Cystic fibrosis is the most common, life-threatening, autosomal recessive disease in the Caucasian population. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, which encodes a chloride ion channel expressed on the surface of epithelial cells. There are more than 2000 variants of the cystic fibrosis transmembrane conductance regulator gene reported worldwide. Some of these variants cause classic cystic fibrosis, while others are labeled as variants of unknown significance or variants of varying clinical consequences alleles and associated with atypical disease or cystic fibrosis transmembrane conductance regulator-related disorders. Although these alleles do not directly cause cystic fibrosis, they may predispose compound heterozygous patients to certain clinical phenotypes. Specifically, 1677delTA has been reported as a pathogenic allele in homozygous state or in combination with other cystic fibrosis-causing alleles. However, the L997F allele is considered to be benign or causative of non-classic cystic fibrosis or cystic fibrosis transmembrane conductance regulator-related disorders in combination with other pathogenic alleles. In this case series, we describe three cases with 1677delTA and L997F genotype, and speculate that a co-concurrence of these two alleles in trans does not cause classic cystic fibrosis symptoms; however, because the late-onset of cystic fibrosis is possible in the presence of rare alleles, such as L997F, longer follow-up of these patients and identification of a greater number of adults with 1677delTA\/L997F genotype are necessary to make final conclusion about the nature of this genotype. <\/jats:p>","DOI":"10.1177\/2050313x231177163","type":"journal-article","created":{"date-parts":[[2023,5,29]],"date-time":"2023-05-29T07:24:05Z","timestamp":1685345045000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Additional evidence on the phenotype produced by combination of <i>CFTR<\/i> 1677delTA alleles and their relevance in causing CFTR-related disease"],"prefix":"10.1177","volume":"11","author":[{"given":"Tinatin","family":"Tkemaladze","sequence":"first","affiliation":[{"name":"Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia"},{"name":"Department of Pediatrics, Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1200-0230","authenticated-orcid":false,"given":"Eka","family":"Kvaratskhelia","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia"},{"name":"Bakhutashvili Institute of Medical Biotechnology, Tbilisi State Medical University, Tbilisi, Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariam","family":"Ghughunishvili","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia"},{"name":"Department of Pediatrics, Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Tbilisi, Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Irakli","family":"Rtskhiladze","sequence":"additional","affiliation":[{"name":"Medical Center Mrcheveli, Tbilisi, Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zurab","family":"Zaalishvili","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nata","family":"Nakaidze","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael J","family":"Lentze","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children\u2019s Hospital Medical Center, University Hospitals Bonn, Bonn, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elene","family":"Abzianidze","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Volha","family":"Skrahina","sequence":"additional","affiliation":[{"name":"Centogene GmbH, Rostock, Germany"},{"name":"Arcensus GmbH, Rostock, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arndt","family":"Rolfs","sequence":"additional","affiliation":[{"name":"Centogene GmbH, Rostock, Germany"},{"name":"Arcensus GmbH, Rostock, Germany"},{"name":"Medical Faculty, University of Rostock, Rostock, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,5,29]]},"reference":[{"doi-asserted-by":"publisher","key":"bibr1-2050313X231177163","DOI":"10.1016\/S0140-6736(09)60327-5"},{"unstructured":"Cystic Fibrosis Mutation Database (CFTR1). http:\/\/www.genet.sickkids.on.ca (accessed 15 August 2022).","key":"bibr2-2050313X231177163"},{"doi-asserted-by":"publisher","key":"bibr3-2050313X231177163","DOI":"10.1091\/mbc.e04-11-1010"},{"doi-asserted-by":"publisher","key":"bibr4-2050313X231177163","DOI":"10.1183\/09031936.00228013"},{"unstructured":"Cystic Fibrosis Foundation. Cystic fibrosis foundation patient registry 2021 annual data report, https:\/\/www.cff.org\/medical-professionals\/patient-registry (accessed 10 September 2022).","key":"bibr5-2050313X231177163"},{"unstructured":"CFTR2. Clinical functional translation of CFTR, http:\/\/www.cftr2.org (accessed 12 September 2022).","key":"bibr6-2050313X231177163"},{"doi-asserted-by":"publisher","key":"bibr7-2050313X231177163","DOI":"10.1111\/j.1399-0004.2005.00437.x"},{"doi-asserted-by":"publisher","key":"bibr8-2050313X231177163","DOI":"10.1038\/ejhg.2008.136"},{"key":"bibr9-2050313X231177163","first-page":"39","volume":"2","author":"Khurtsilava I","year":"2020","journal-title":"J Exp Clin Med"},{"doi-asserted-by":"publisher","key":"bibr10-2050313X231177163","DOI":"10.1091\/mbc.e14-04-0935"},{"doi-asserted-by":"publisher","key":"bibr11-2050313X231177163","DOI":"10.1159\/000472174"},{"doi-asserted-by":"publisher","key":"bibr12-2050313X231177163","DOI":"10.1136\/jmedgenet-2016-103985"},{"doi-asserted-by":"publisher","key":"bibr13-2050313X231177163","DOI":"10.1002\/ajmg.10461"},{"doi-asserted-by":"publisher","key":"bibr14-2050313X231177163","DOI":"10.1046\/j.1469-1809.2003.00028.x"},{"key":"bibr15-2050313X231177163","first-page":"101750","volume":"40","author":"Tkemaladze T","year":"2022","journal-title":"Resp Med Case Rep"},{"unstructured":"ClinVar NIH and National Library of Medicine. https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/variation\/7229\/?new_evidence=true (accessed 15 March 2023).","key":"bibr16-2050313X231177163"},{"unstructured":"CFTR-France Database. https:\/\/cftr.iurc.montp.inserm.fr\/cgi-bin\/affiche.cgi?variant=c.2991G%3EC (accessed 15 March 2023).","key":"bibr17-2050313X231177163"},{"doi-asserted-by":"publisher","key":"bibr18-2050313X231177163","DOI":"10.1186\/s12881-019-0785-z"},{"doi-asserted-by":"publisher","key":"bibr19-2050313X231177163","DOI":"10.3390\/genes12020206"}],"container-title":["SAGE Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X231177163","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X231177163","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X231177163","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,4]],"date-time":"2025-03-04T02:06:15Z","timestamp":1741053975000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X231177163"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1]]},"references-count":19,"alternative-id":["10.1177\/2050313X231177163"],"URL":"https:\/\/doi.org\/10.1177\/2050313x231177163","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"type":"print","value":"2050-313X"},{"type":"electronic","value":"2050-313X"}],"subject":[],"published":{"date-parts":[[2023,1]]},"article-number":"2050313X231177163"}}