The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia

Haner DİRESKENELİ, Levent KILIÇ, Umut KALYONCU, Kenan AKSU, Fatih YILDIZ, Cemal BES, Veli YAZISIZ, Emel GÖNÜLLÜ, Dilek SOLMAZ, Sedat YILMAZ, Gözde YILDIRIM ÇETİN, Hakan EMMUNGİL, Servet AKAR, Timuçin KAŞİFOĞLU, Sema YILMAZ, Yavuz PEHLİVAN, İsmail SARI, Şükran ERTEN, Soner ŞENEL, Fezan ŞAHİN, Sibel Y

Abstract

Background/aim: The distribution of Mediterranean fever (MEFV) gene mutations in Turkish familial Mediterranean fever (FMF)patients varies according to geographic area of Turkey. There is a need for highly representative data for Turkish FMF patients. The aimof our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenterstudy.Materials and methods: Data of the 2246 FMF patients, from 15 adult rheumatology clinics located in different parts of the country,were evaluated retrospectively. The following mutations have been tested in all patients: M694V, M680I, M694I, V726A, and E148Q.Results: There were 1719 FMF patients with available genetic testing. According to the genotyping, homozygous M694V, present in413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allelefrequencies of common mutations were: M694V (n = 1529, 44.5%), M680I (n = 423, 12.3%), V726A (n = 315, 9.2%), E148Q (n = 214,1%), and M694I (n = 12,