Next-generation screening of a panel of genes associated with periodic fever syndromes in patients with Familial Mediterranean Fever and their clinical characteristics

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dc.authorscopusid56497061100
dc.authorscopusid56086888000
dc.authorscopusid56468900300
dc.authorscopusid6504396778
dc.contributor.authorBozgeyik, Esra
dc.contributor.authorMercan, Rıdvan
dc.contributor.authorArslan, A.
dc.contributor.authorTozkır, Hilmi
dc.date.accessioned2022-05-11T14:02:42Z
dc.date.available2022-05-11T14:02:42Z
dc.date.issued2020
dc.departmentFakülteler, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, Tıbbi Biyoloji Ana Bilim Dalı
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Ana Bilim Dalı
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, İç Hastalıkları Ana Bilim Dalı
dc.description.abstractFamilial Mediterranean Fever (FMF) is a hereditary fever syndrome that primarily affects Mediterranean populations. For the study, total number of 182 patients with FMF disease were enrolled and screening of a panel of genes, called “fever panel” which comprises 17 genes, was performed. The most common mutations in MEFV gene were homozygous M694V missense mutation (4.3%) and R202Q missense mutation (4.9%). The most common heterozygous mutations were R202Q (26.5%), M694V (25.9%) and E148Q (11.9%). Compound heterozygous and homozygous mutations were also detected. Also, different types of mutations were identified in NOD2, CARD14, NLRP12, NLRP3, NLRP7, IL1RN, LPIN2, TNFRSF1A, MVK and PSTPIP1 genes. Two novel missense variations in the MEFV gene, Gln34Pro and Ile247Val, which have not been previously reported in the databases, were identified. Also, Thr91Ile missense variation in the NOD2 gene, Gly461Cys missense variation in NLRP3 and Tyr732Stop nonsense variation in LPIN2 were firstly identified. The results of the current study suggest that in addition to the MEFV gene which has an important roles in FMF, molecular screening of other genes related to other autoinflammatory diseases might provide support in suspected cases and provide detailed information about the course of the disease. © 2020 Elsevier Inc.
dc.identifier.doi10.1016/j.ygeno.2020.03.012
dc.identifier.endpage2762
dc.identifier.issn0888-7543
dc.identifier.issue4en_US
dc.identifier.pmid32199921
dc.identifier.scopus2-s2.0-85083010504
dc.identifier.scopusqualityQ2
dc.identifier.startpage2755
dc.identifier.urihttps://doi.org/10.1016/j.ygeno.2020.03.012
dc.identifier.urihttps://hdl.handle.net/20.500.11776/4448
dc.identifier.volume112
dc.identifier.wosWOS:000534479700009
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorBozgeyik, Esra
dc.institutionauthorMercan, Rıdvan
dc.institutionauthorArslan, A.
dc.institutionauthorTozkır, Hilmi
dc.language.isoen
dc.publisherAcademic Press Inc.
dc.relation.ispartofGenomics
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectFever panel
dc.subjectFMF
dc.subjectMEFV
dc.subjectNext-generation sequencing
dc.subjectarginine
dc.subjectcysteine
dc.subjectglutamic acid
dc.subjectglutamine
dc.subjectisoleucine
dc.subjectmethionine
dc.subjectproline
dc.subjectpyrin
dc.subjectthreonine
dc.subjecttyrosine
dc.subjectvaline
dc.subjectMEFV protein, human
dc.subjectpyrin
dc.subjectadolescent
dc.subjectadult
dc.subjectArticle
dc.subjectCARD14 gene
dc.subjectcontrolled study
dc.subjectfamilial Mediterranean fever
dc.subjectfemale
dc.subjectgene
dc.subjectgene mutation
dc.subjectgenetic association
dc.subjectgenetic screening
dc.subjecthereditary periodic fever
dc.subjectheterozygosity
dc.subjecthigh throughput sequencing
dc.subjecthomozygosity
dc.subjecthuman
dc.subjectIL1RN gene
dc.subjectLPIN2 gene
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectMEFV gene
dc.subjectmiddle aged
dc.subjectmissense mutation
dc.subjectMVK gene
dc.subjectNLRP12 gene
dc.subjectNLRP3 gene
dc.subjectNLRP7 gene
dc.subjectNOD2 gene
dc.subjectnonsense mutation
dc.subjectpriority journal
dc.subjectPSTPIP1 gene
dc.subjectTNFRSF1A gene
dc.subjectyoung adult
dc.subjectDNA sequence
dc.subjectfamilial Mediterranean fever
dc.subjectgenetics
dc.subjecthigh throughput sequencing
dc.subjectmutation
dc.subjectsyndrome
dc.subjectAdult
dc.subjectFamilial Mediterranean Fever
dc.subjectHigh-Throughput Nucleotide Sequencing
dc.subjectHumans
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectMutation
dc.subjectMutation, Missense
dc.subjectPyrin
dc.subjectSequence Analysis, DNA
dc.subjectSyndrome
dc.subjectYoung Adult
dc.titleNext-generation screening of a panel of genes associated with periodic fever syndromes in patients with Familial Mediterranean Fever and their clinical characteristics
dc.typeArticle

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