MEFV Mutations in Cases with Familial Mediterranean Fever (FMF)

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