Familial Mediterranean fever is an autosomal recessive disorder caused by mutations in the FMF gene (MEFV).
This gene has been mapped to chromosome 16p13.3 and generates a protein (pyrin) found exclusively in
granulocytes. In this study, the most prevalent MEFV gene mutations (E148Q, P369S, F479L, M680I (G/C), M680I
(G/A), I692del, M694V, M694I, K695R, V726A, A744S and R761H) were analyzed for 197 cases referred to our
department with the diagnosis of FMF. Of these cases, 93 (47%) were identified with an MEFV gene mutation.
Among those, 15 patients were found to be homozygote for pyrin mutations; 22 patients were with compound
heterozygosity; 57 patients were found to carry only one of the screened mutations. The most frequent mutations in
heterozygous or homozygous patients were M694V, M680I and E148Q, comprising 31%, 12% and 9% of the
alleles, respectively. They were followed by A744S and V726A with rates of 4% and 3% of the alleles, respectively.
The P369S mutation accounted for 2% of the alleles only and F479L, M694I, K695R and R761H mutations were
rarely determined. M680I (G/A) and I692del mutations were not found in our patients.
Key Words: Familial Mediterranean Fever (FMF), MEFV gene, Mutation
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