Turkish Journal of Medical Sciences
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,
DOI
10.3906/sag-1809-100
Keywords
Familial Mediterranean fever, Mediterranean fever gene mutations, M694V, Turkey
First Page
472
Last Page
477
Recommended Citation
BİLGE, N. Ş, SARI, İ, SOLMAZ, D, ŞENEL, A. S, EMMUNGİL, H, KILIÇ, L, ÖNER, S. Y, YILDIZ, F, YILMAZ, S, ERSÖZLÜ, E. D, TUFAN, M. A, YILMAZ, S, YAZISIZ, V, PEHLİVAN, Y, & BES, C (2019). The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of Anatolia. Turkish Journal of Medical Sciences 49 (2): 472-477. https://doi.org/10.3906/sag-1809-100
