Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder, which occurs commonly in Mediterranean countries causing symptoms such as recurrent acute fever, abdominal pain, joint pain etc. FMF prevalence varies in Turkey locally. However, 0-5 out of every 1000 person have FMF disorder. Marenostrin encoding fever gene (MEFV) is associated with FMF, a gene which is located on the short arm of chromosome 16 (16p13.3), mapped to the 80 kb consisting of 10 exons. Although mutations occur in all exons, clinically the most common mutations are revealed in exon 2, exon 3, exon 5 and exon 10. M694I, M694V, M680I/GA, M680I/GC, V726A, E148Q, R761H, A744S, K695R, P369S, F479L, R202Q, I692del, K695M and M694L are among the most frequently observed mutations of MEVF in various geographical regions.
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