The Genetic Analysis of Cystic Fibrosis Patients with Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkey

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dc.contributor.authorErdogan, Murat
dc.contributor.authorKose, Mehmet
dc.contributor.authorPekcan, Sevgi
dc.contributor.authorHangul, Melih
dc.contributor.authorBalta, Burhan
dc.contributor.authorKiraz, Aslihan
dc.contributor.authorGonen, Gizem Akinci
dc.date.accessioned2024-02-23T14:41:03Z
dc.date.available2024-02-23T14:41:03Z
dc.date.issued2021
dc.departmentNEÜen_US
dc.description.abstractBackground: Cystic fibrosis, a pulmonary disease which is an autosomal recessive, inherited, multisystemic genetic disease commonly seen in the Caucasian race, is the most frequent cause of mortality and morbidity. So far, more than 2000 disease-causing gene variants have been found and this number has been increasing with the studies conducted. Although there is not yet enough data that include the Turkish population, the recent increase of studies is noteworthy. Aims: To discover the genetic variation in patients diagnosed with cystic fibrosis in the Central Anatolian region. Study Design: Cross-sectional study. Methods: The study was carried out in the Central Anatolian region in 3 pediatric pulmonology departments (Kayseri, Konya, and Ankara) in Turkey between July 2014 and December 2017. The Sanger and Next Generation Sequence analyses were used for exon and exon-intron boundaries in the cystic fibrosis transmembrane conductance regulatory (CFTR) gene, and in selected patients, mutation analysis was performed using the Multiplex Ligation-dependent Probe Amplification technique for large deletions and duplications. Results: CFTR gene analysis was performed for 316 patients and 215 of them were genetically diagnosed with cystic fibrosis. Sixty-three different variants were defined in these patients and 7 of these were large deletions/duplications detected with the MLPA method. The most frequent variants were F508del (29.6%), G85E (8.2%), N1303K (8.2%), Y515* (7.5%), and G542* (3.4%). Conclusion: Using sequencing and Multiplex Ligation-dependent Probe Amplification methods, the identification of seven new mutations that were not previously reported in the literature contributes to a better understanding of the heterogeneous nature of CFTR mutations in the Turkish population. When no mutations are detected (pathogenic/probably pathogenic) in clinically compatible cases, Multiplex Ligationdependent Probe Amplification analysis contributes significantly to the diagnosis.en_US
dc.identifier.doi10.5152/balkanmedj.2021.21199
dc.identifier.endpage364en_US
dc.identifier.issn2146-3123
dc.identifier.issn2146-3131
dc.identifier.issue6en_US
dc.identifier.pmid34860163en_US
dc.identifier.scopus2-s2.0-85119613013en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage357en_US
dc.identifier.urihttps://doi.org/10.5152/balkanmedj.2021.21199
dc.identifier.urihttps://hdl.handle.net/20.500.12452/16682
dc.identifier.volume38en_US
dc.identifier.wosWOS:000723003700006en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Publ Houseen_US
dc.relation.ispartofBalkan Medical Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[Keyword Not Available]en_US
dc.titleThe Genetic Analysis of Cystic Fibrosis Patients with Seven Novel Mutations in the CFTR Gene in the Central Anatolian Region of Turkeyen_US
dc.typeArticleen_US

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