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

Authors: NAZİFE ŞULE YAŞAR BİLGE, İSMAİL SARI, DİLEK SOLMAZ, ABDURRAHMAN SONER ŞENEL, HAKAN EMMUNGİL, LEVENT KILIÇ, SİBEL YILMAZ ÖNER, FATİH YILDIZ, SEDAT YILMAZ, EMİNE DUYGU ERSÖZLÜ, MÜGE AYDIN TUFAN, SEMA YILMAZ, VELİ YAZISIZ, YAVUZ PEHLİVAN, CEMAL BES, GÖZDE YILDIRIM ÇETİN, ŞÜKRAN ERTEN, EMEL GÖNÜLLÜ, FEZAN MUTLU, SERVET AKAR, KENAN AKSU, UMUT KALYONCU, RAFİ HANER DİRESKENELİ, EREN ERKEN, BÜNYAMİN KISACIK, MEHMET SAYARLIOĞLU, MUHAMMET ÇINAR, TİMUÇİN KAŞİFOĞLU

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 aim of our study was to investigate the distribution of the common MEFV mutations in Turkish FMF patients in a nationwide, multicenter stu dy.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 in 413 patients (24%), was the most common mutation . One hundred and fifty-four (9%) of patients had no detectable mutations. Allele frequencies 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, <1%). Conclusion: In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutations obtained from adult Turkish FMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles.

Keywords: Familial Mediterranean fever, Mediterranean fever gene mutations, M694V, Turkey

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