TY  - JOUR
TI  - The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia
AB  - 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, <1%).Conclusion: In this large-scale multicenter study, we provided information about the frequencies of common MEFV gene mutationsobtained from adult Turkish FMF patients. Nearly half of the patients were carrying at least one M694V mutations in their alleles.
AU  - BES, Cemal
AU  - Kisacik, Bunyamin
AU  - ÇINAR, Muhammed
AU  - ŞENEL, SONER
AU  - YAŞAR BİLGE, N. Şule
AU  - KALYONCU, Umut
AU  - YILMAZ, Sedat
AU  - Kılıç, Levent
AU  - KAŞİFOĞLU, Timuçin
AU  - YILDIRIM ÇETİN, Gözde
AU  - Akar, Servet
AU  - Gönüllü, Emel
AU  - ERSÖZLÜ BOZKIRLI, Duygu
AU  - DİRESKENELİ, RAFİ HANER
AU  - ŞAHİN, Fezan
AU  - PEHLİVAN, Yavuz
AU  - YILMAZ, Sema
AU  - Sayarlıoğlu, Mehmet
AU  - YAZISIZ, VELİ
AU  - Solmaz, Dilek
AU  - YILMAZ ÖNER, Sibel
AU  - Erten, Şükran
AU  - YILDIZ, FATİH
AU  - AKSU, Kenan
AU  - AYDIN TUFAN, Müge
AU  - emmungil, hakan
AU  - ERKEN, EREN
AU  - Sari, Ismail
DO  - 10.3906/sag-1809-100
PY  - 2019
JO  - Turkish Journal of Medical Sciences
VL  - 49
IS  - 2
SN  - 1300-0144
SP  - 472
EP  - 477
DB  - TRDizin
UR  - http://search/yayin/detay/335998
ER  -