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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\u2009=\u2009476, 7.05%), M694V (n\u2009=\u2009439, 6.51%), V726A (n\u2009=\u2009146, 2.16%) and M680I (n\u2009=\u2009135, 2%). In a case clinically diagnosed as FMF, a new mutation called S145G (p. Ser145Gly, c.433A\u2009&gt;\u2009G) 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.<\/jats:p>","DOI":"10.1007\/s11033-020-06040-y","type":"journal-article","created":{"date-parts":[[2021,3,18]],"date-time":"2021-03-18T21:44:51Z","timestamp":1616103891000},"page":"2025-2033","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":33,"title":["Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings"],"prefix":"10.1007","volume":"48","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6077-8258","authenticated-orcid":false,"given":"Abdullah","family":"Arpac\u0131","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serdar","family":"Do\u011fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hazal Fatma","family":"Erdo\u011fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c7i\u011fdem","family":"El","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sibel Elmac\u0131o\u011flu","family":"Cura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,3,18]]},"reference":[{"key":"6040_CR1","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1016\/j.genrep.2018.01.008","volume":"11","author":"WA Zarouk","year":"2018","unstructured":"Zarouk WA, El-Bassyouni HT, Ramadan A, Fayez AG, Esmaiel NN, Foda BM et al (2018) Screening of the most common MEFV mutations in a large cohort of Egyptian patients with Familial Mediterranean fever. 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Therefore, genetic analysis results and patient data were used with permission from Hatay Mustafa Kemal University Health Practice and Research Hospital. All authors give consent for participation of the current study. All authors give consent for publication of the manuscript in Molecular Biology Reports.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed consent"}}]}}