The spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T)

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dc.contributor.authorCoskun, Salih
dc.contributor.authorUstyol, Lokman
dc.contributor.authorBayram, Yasemin
dc.contributor.authorBektas, M. Selcuk
dc.contributor.authorGulsen, Suleyman
dc.contributor.authorCim, Abdullah
dc.contributor.authorUluca, Unal
dc.date.accessioned2024-04-24T16:14:51Z
dc.date.available2024-04-24T16:14:51Z
dc.date.issued2015
dc.departmentDicle Üniversitesien_US
dc.description.abstractFamilial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever and abdominal pain, synovitis, and pleuritis. The aim of this study was to determine the frequency and distribution of Mediterranean fever (MEFV) gene mutations in Van province of Eastern Anatolia and to compare them with the other studies from various regions of Turkey. Therefore, we retrospectively evaluated MEFV gene mutations in 1058 pediatric patients with suspected FMF. The MEW gene mutations were investigated using Sanger sequencing and the multiplex minisequencing technique. We identified 37 different genotypes and 16 different mutations. The four most common mutations and allelic frequencies were M694V (36.50%), E148Q (32.77%), V726A (14.09%), and M694I (4.41%). M694V was the most common mutation, and the M694I frequency was found to be higher compared to studies from other regions of Turkey. In addition, we identified a novel missense mutation (R361T, c.1082G>C) in exon 3 of the MEW gene in a 12-year-old boy, who had a typical FMF phenotype. In conclusion, this study evaluated the distribution of MEFV gene mutations in children with FMF as the first study conducted in Van province, Eastern Anatolia. (C) 2015 Elsevier B.V. All rights reserved.en_US
dc.identifier.doi10.1016/j.gene.2015.02.059
dc.identifier.endpage131en_US
dc.identifier.issn0378-1119
dc.identifier.issn1879-0038
dc.identifier.issue1en_US
dc.identifier.pmid25703702
dc.identifier.scopus2-s2.0-84925142936
dc.identifier.scopusqualityQ2
dc.identifier.startpage128en_US
dc.identifier.urihttps://doi.org/10.1016/j.gene.2015.02.059
dc.identifier.urihttps://hdl.handle.net/11468/15443
dc.identifier.volume562en_US
dc.identifier.wosWOS:000352675300016
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoenen_US
dc.publisherElsevieren_US
dc.relation.ispartofGene
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectFamilial Mediterranean Feveren_US
dc.subjectMefven_US
dc.subjectR361ten_US
dc.subjectC.1082g > Cen_US
dc.subjectAllelic Frequenciesen_US
dc.subjectNovel Mutationen_US
dc.titleThe spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T)en_US
dc.titleThe spectrum of MEFV gene mutations and genotypes in Van province, the eastern region of Turkey, and report of a novel mutation (R361T)
dc.typeArticleen_US

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