Bozgeyik, EsraMercan, RıdvanArslan, A.Tozkır, Hilmi2022-05-112022-05-1120200888-7543https://doi.org/10.1016/j.ygeno.2020.03.012https://hdl.handle.net/20.500.11776/4448Familial 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.en10.1016/j.ygeno.2020.03.012info:eu-repo/semantics/openAccessFever panelFMFMEFVNext-generation sequencingargininecysteineglutamic acidglutamineisoleucinemethionineprolinepyrinthreoninetyrosinevalineMEFV protein, humanpyrinadolescentadultArticleCARD14 genecontrolled studyfamilial Mediterranean feverfemalegenegene mutationgenetic associationgenetic screeninghereditary periodic feverheterozygosityhigh throughput sequencinghomozygosityhumanIL1RN geneLPIN2 genemajor clinical studymaleMEFV genemiddle agedmissense mutationMVK geneNLRP12 geneNLRP3 geneNLRP7 geneNOD2 genenonsense mutationpriority journalPSTPIP1 geneTNFRSF1A geneyoung adultDNA sequencefamilial Mediterranean fevergeneticshigh throughput sequencingmutationsyndromeAdultFamilial Mediterranean FeverHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMutationMutation, MissensePyrinSequence Analysis, DNASyndromeYoung AdultArticle112427552762Q1WOS:0005344797000092-s2.0-8508301050432199921Q2