A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype-c.4096A > T

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dc.contributor.authorArslan, Ahmet Burak
dc.contributor.authorZamani, Ayse Gul
dc.contributor.authorPekcan, Sevgi
dc.contributor.authorYildirim, Mahmut Selman
dc.date.accessioned2024-02-23T14:16:58Z
dc.date.available2024-02-23T14:16:58Z
dc.date.issued2020
dc.departmentNEÜen_US
dc.description.abstractCystic fibrosis is a chronic multisystemic disease originating from functional alterations in CFTR (cystic fibrosis transmembrane conductance regulator) protein. To date, more than 300 pathogenic variants have been described in the literature. However, the diagnosis of CF, which was thought to become easier after the CFTR gene was identified, became more complicated due to the enormous amount of variations. In this study, we present a patient whose clinical findings were consistent with cystic fibrosis (CF) and showed a homozygous missense change that is not previously reported in the CFTR gene as pathogenic. In the next-generation sequencing analysis, homozygous c.4096A > T single-nucleotide exchange (I1366F [p.Ile1366Phe], missense) was shown in both alleles of the patient' CFTR gene. According to our database analysis, this variant has not yet been previously reported (VarSome, ClinVar, MutationTaster, Ensembl, dbSNP, PubMed). We do consider the change as pathogenic since the patient's findings were compatible with CF and the data analysis was in favor of pathogenicity. The most recent consensus report published in 2017 emphasized the importance of CFTR gene analysis, and this study emphasizes the difficulties of associating CFTR gene variations with a clinical picture and constitutes a new data on the genotype-phenotype correlation of CFTR variants. Also, considering the frequency of CF (according to World Health Organization data, every 1 out of 2,000-3,000 infants is born with CF in European Union countries and every 1 out of 3,500 in the United States) as well as the increasing rate of molecular studies performed on CF patients worldwide, reporting novel variation has an additional value.en_US
dc.identifier.doi10.1055/s-0039-1694964
dc.identifier.endpage43en_US
dc.identifier.issn2146-4596
dc.identifier.issn2146-460X
dc.identifier.issue1en_US
dc.identifier.pmid31976142en_US
dc.identifier.startpage40en_US
dc.identifier.urihttps://doi.org/10.1055/s-0039-1694964
dc.identifier.urihttps://hdl.handle.net/20.500.12452/12856
dc.identifier.volume9en_US
dc.identifier.wosWOS:000508582700006en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGeorg Thieme Verlag Kgen_US
dc.relation.ispartofJournal Of Pediatric Geneticsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCftr (Cystic Fibrosis Transmembrane Conductance Regulator)en_US
dc.subjectNovelen_US
dc.subjectPathogenic Varianten_US
dc.subjectCystic Fibrosisen_US
dc.subjectNext-Generation Sequencingen_US
dc.titleA Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype-c.4096A > Ten_US
dc.typeArticleen_US

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