Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings

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dc.contributor.authorArpaci, Abdullah
dc.contributor.authorDogan, Serdar
dc.contributor.authorErdogan, Hazal Fatma
dc.contributor.authorEl, Cigdem
dc.contributor.authorCura, Sibel Elmacioglu
dc.date.accessioned2024-09-18T20:25:10Z
dc.date.available2024-09-18T20:25:10Z
dc.date.issued2021
dc.departmentHatay Mustafa Kemal Üniversitesien_US
dc.description.abstractFamilial Mediterranean Fever (FMF), which is an autosomal recessive disease characterized by recurrent self-limiting fever, peritonitis, pleuritis, arthritis and erysipelas-like erythemas, has been common among ethnic groups such as Turkish, Armenian, Arabic and Jewish. The clinical presentation is caused by mutations in the MEFV gene encoding the Pyrin protein. In this study, we aimed to present a new mutation that has not been previously defined from the mutations in the MEFV gene which is responsible for the genetic pathology of familial Mediterranean fever and to evaluate the frequency of distribution of the MEFV gene mutation among different ethnic groups living in our region. In present retrospective study, a total of 2639 clinically suspected FMF patients who were referred to Hatay Mustafa Kemal University Hospital between 2010 and 2017 were recorded. MEFV gene mutations were observed using DNA sequence analysis. MEFV mutations were found in 2079 of the 2639 patients (78.7%) Among these patients 184 (6.97%) were homozygous, while 1365 (51.72%) were heterozygous. The most frequently observed mutation was R202Q (1319, 19.55%) followed by E148Q (n = 476, 7.05%), M694V (n = 439, 6.51%), V726A (n = 146, 2.16%) and M680I (n = 135, 2%). In a case clinically diagnosed as FMF, a new mutation called S145G (p. Ser145Gly, c.433A > G) was identified in exon 2 of the MEFV gene. Besides, addition of a new pathogenic MEFV variant to the literature, the relationship between the FMF clinic and homozygous form of R202Q, which was previously considered as a polymorphism, was highlighted.en_US
dc.identifier.doi10.1007/s11033-020-06040-y
dc.identifier.endpage2033en_US
dc.identifier.issn0301-4851
dc.identifier.issn1573-4978
dc.identifier.issue3en_US
dc.identifier.pmid33738724en_US
dc.identifier.scopus2-s2.0-85103044109en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage2025en_US
dc.identifier.urihttps://doi.org/10.1007/s11033-020-06040-y
dc.identifier.urihttps://hdl.handle.net/20.500.12483/10122
dc.identifier.volume48en_US
dc.identifier.wosWOS:000630277200001en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherSpringeren_US
dc.relation.ispartofMolecular Biology Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectFMFen_US
dc.subjectR202Qen_US
dc.subjectTel Hashomer criteriaen_US
dc.titlePresentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findingsen_US
dc.typeArticleen_US

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