{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T09:22:13Z","timestamp":1788340933842,"version":"build-2803163510"},"reference-count":36,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T00:00:00Z","timestamp":1787875200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int. J. Mol. Sci.","IJMS"],"abstract":"<jats:p>CFTR variant spectra vary across populations, potentially limiting the transferability of reference classifications. We compared CFTR2 and CFTR-France with a single-centre Turkish cystic fibrosis referral cohort of 418 individuals tested between 2016 and 2022. To avoid incorporation bias, the primary analysis used measured sweat-test status as a genetics-independent anchor; unperformed tests were excluded rather than counted as negative. A CFTR variant was detected in 162\/418 individuals (38.8%). Sweat-test results were available for 148 individuals: 85 positive and 63 negative. Variant detection was more frequent among sweat-positive individuals (50\/85 vs. 23\/63; OR 2.48, 95% CI 1.27\u20134.86; Fisher\u2019s exact p = 0.008). Excluding exact ties, measured-sweat alignment was 22\/28 (78.6%, 95% CI 59.0\u201391.7%) for CFTR2 and 15\/21 (71.4%, 95% CI 47.8\u201388.7%) for CFTR-France. Direct database agreement was 362\/395 (91.6%; Cohen\u2019s \u03ba = 0.74) across three classes and 330\/330 (100%) for directional binary labels. CFTR2 and CFTR-France represented 64\/75 (85.3%) and 58\/75 (77.3%) cohort variants, respectively. Measured-sweat alignment was high for CF-causing but variable for non-CF-causing variants. Therefore, recurrent non-CF-causing variants should be reviewed case by case; the present data alone do not justify pathogenic reclassification, and phase-resolved and functional studies are required.<\/jats:p>","DOI":"10.3390\/ijms27177715","type":"journal-article","created":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T09:48:36Z","timestamp":1788256116000},"page":"7715","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Comparative Alignment of CFTR2 and CFTR-France Classifications with a Turkish Cystic Fibrosis Referral Cohort"],"prefix":"10.3390","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1563-2292","authenticated-orcid":false,"given":"Mustafa Tar\u0131k","family":"Alay","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Ankara Etlik City Hospital, 06170 Ankara, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filiz","family":"\u00d6zdemir","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cerrahpa\u015fa School of Medicine, Istanbul University-Cerrahpa\u015fa, 34098 Istanbul, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2584-451X","authenticated-orcid":false,"given":"Deniz","family":"Agirbasli","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cerrahpa\u015fa School of Medicine, Istanbul University-Cerrahpa\u015fa, 34098 Istanbul, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet","family":"Seven","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cerrahpa\u015fa School of Medicine, Istanbul University-Cerrahpa\u015fa, 34098 Istanbul, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8549-5564","authenticated-orcid":false,"given":"Aysel","family":"Kalayci","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Cerrahpa\u015fa School of Medicine, Istanbul University-Cerrahpa\u015fa, 34098 Istanbul, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"9812074","DOI":"10.1155\/2021\/9812074","article-title":"Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort","volume":"2021","author":"Cambraia","year":"2021","journal-title":"Dis. 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