{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T21:33:55Z","timestamp":1788298435690,"version":"build-2803163510"},"reference-count":25,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T00:00:00Z","timestamp":1726617600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T00:00:00Z","timestamp":1726617600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Backgrounds<\/jats:title>\n                    <jats:p>\n                      Genetic variants in CF transmembrane conductance regulator (\n                      <jats:italic>CFTR<\/jats:italic>\n                      ) gene causes cystic fibrosis (CF), a prevalent autosomal recessive disorder. More than 2000 variants in\n                      <jats:italic>CFTR<\/jats:italic>\n                      have been described as disease causative. This study aims to delineate the genotypic and phenotypic landscape of CF among people with CF (pwCF) followed at the largest CF center in Turkey.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      We conducted a descriptive and retrospective analysis of 481 patients registered with the European CF Society Patient Registry and followed at Marmara University Selim \u00c7\u00f6remen CF Center from 2015 onwards. Comprehensive\n                      <jats:italic>CFTR<\/jats:italic>\n                      analysis was utilized for genetic diagnosis. Besides the whole cohort, novel variants and complex alleles were also described.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Our cohort exhibited a broad spectrum of\n                      <jats:italic>CFTR<\/jats:italic>\n                      variants, with 136 different variants detected, indicating substantial genetic diversity. The F508del variant was less prevalent in our cohort compared to US and European averages, which could reflect unique genetic and demographic characteristics of the Turkish population. Additionally, we identified nine novel variants in 12 alleles, which enhances the understanding of CF's genetic complexity in this region, and complex alleles in 32 pwCF.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Our research underscores the heterogeneity of\n                      <jats:italic>CFTR<\/jats:italic>\n                      variants in Turkey and highlights the necessity for extensive genetic profiling particularly for diverse populations to provide effective personalized treatment strategies. It is crucial to understand the full spectrum of\n                      <jats:italic>CFTR<\/jats:italic>\n                      variants with the advent of CFTR modulators.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ppul.27249","type":"journal-article","created":{"date-parts":[[2024,9,18]],"date-time":"2024-09-18T07:12:24Z","timestamp":1726643544000},"page":"3540-3549","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Exploring Turkey's mosaic of novel variants and complex alleles in cystic fibrosis genetics"],"prefix":"10.1002","volume":"59","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1964-4263","authenticated-orcid":false,"given":"Ceren Ay\u00e7a","family":"Y\u0131ld\u0131z","sequence":"first","affiliation":[{"name":"Division of Pediatric Pulmonology Marmara University School of Medicine Istanbul 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