THE MEFV GENE PATHOGENIC VARIANTS AND PHENOTYPE-GENOTYPE CORRELATION IN CHILDREN WITH FAMILIAL MEDITERRANEAN FEVER IN THE CANAKKALE POPULATION

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dc.authoridAylanc, Hakan/0000-0002-8907-3809
dc.authoridYildirim, Sule/0000-0002-1815-808X
dc.contributor.authorBattal, F.
dc.contributor.authorSılan, Fatma
dc.contributor.authorTopaloglu, N.
dc.contributor.authorAylanc, H.
dc.contributor.authorYildirim, S.
dc.contributor.authorBinnetoglu, Koksal F.
dc.contributor.authorTekin, M.
dc.date.accessioned2025-01-27T20:46:02Z
dc.date.available2025-01-27T20:46:02Z
dc.date.issued2016
dc.departmentÇanakkale Onsekiz Mart Üniversitesi
dc.description.abstractThe aim of the current study was to determine the frequency of the Mediterranean fever (MEFV) gene pathogenic variants in 60 children diagnosed with familial Mediterranean fever (FMF) and to compare the phenotype-genotype correlation. Genomic DNA was isolated by the spin-column method from peripheral blood samples (collected in vacutainers containing EDTA) and buccal smears. The MEFV gene profiles for the current FMF cohort were genotyped by pyrosequencing and direct Sanger sequencing techniques for the target pathogenic variants. The most prominent clinical symptoms were abdominal pain (53.4%), fever (23.4%) and arthritis (23.3%). Eighteen different pathogenic variants were identified and the most frequent were p. Met694Val (20.0%), p. Glu148Gln (13.3%), p. Met680 Ile (11.7%) and p. Arg202Gln (11.7%). Abdominal pain, fever and arthritis were the most common presenting clinical characteristics. Results showed that not only clinical characteristics, but also genotyping of the MEFV gene is needed to establish the correct diagnosis of FMF in children and other family members.
dc.identifier.doi10.1515/bjmg-2016-0032
dc.identifier.endpage28
dc.identifier.issn1311-0160
dc.identifier.issue2
dc.identifier.pmid28289585
dc.identifier.scopus2-s2.0-85015152383
dc.identifier.scopusqualityQ4
dc.identifier.startpage23
dc.identifier.urihttps://doi.org/10.1515/bjmg-2016-0032
dc.identifier.urihttps://hdl.handle.net/20.500.12428/24792
dc.identifier.volume19
dc.identifier.wosWOS:000395946300003
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherMacedonian Acad Sciences Arts
dc.relation.ispartofBalkan Journal of Medical Genetics
dc.relation.publicationcategoryinfo:eu-repo/semantics/openAccess
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WoS_20250125
dc.subjectAmyloidosis
dc.subjectChildren
dc.subjectFamilial Mediterranean fever (FMF)
dc.subjectGenotype-phenotype correlations
dc.subjectPathogenic variant
dc.titleTHE MEFV GENE PATHOGENIC VARIANTS AND PHENOTYPE-GENOTYPE CORRELATION IN CHILDREN WITH FAMILIAL MEDITERRANEAN FEVER IN THE CANAKKALE POPULATION
dc.typeArticle

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