Mefv gene mutation frequency in patients with familial mediterranean fever who applied to Adnan Menderes University Application and Research Hospital

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent inflammatory febrile attacks of serosal and synovial membranes. Disease is caused by mutations in MEFV gene and more than 190 mutations have been defined in affected individuals. Present study aimed to determine the frequency-type of the mutations for MEFV gene in Aydın city and to assess the phenotype?genotype correlation.We have retrospectively evaluated the molecular test results and the medical records of 383 patients identified as having FMF clinical symptoms referred to the Polyclinic of Medical Genetics, Faculty of Medicine, Adnan Menderes University, Aydin over the last 3 years. Patients were screened for 12 common mutations in the MEFV gene using a strip assay (Viennalab) method. Furthermore, correlation in between M694V, compound heterozygous mutations and phenotype were analysed based on clinical data obtained from patients. All the statistical analyses were performed using computer software (SPSS version 15.0).Aong the 383 patients, 169 (%46) were males and 214 (%54) were females (female to male ratio was 1,2:1 ). Mutations in the MEFV gene were identified in 175 (46 %) patients and the mutation detection was negative in 208 (54 %) patients. Of those 175 patients with mutations, 19 (5%) were homozygous, 32(8 %) were compound heterozygous and 124 (33%) were heterozygous. The most frequently observed mutation was M694V (%41), followed by E148Q( %20), M680I(G/C) (%12), R761H (%10) and V726A (%7) mutations. The frequency of the rare mutations were P369S %4, F479L %1, M694I %1, K695R%1, M680I G>A %2 respectively. The most common clinical features were abdominal pain (86,2%), fever (80,7%), arthralgia (7,2%), vomiting (36,1%) and arthritis(34,6). In the patients who bearing M694V mutation fever (P=0,04), arthritis (P=0,01), myalgia (P=0,02), appendectomy ( P=0,04) and proteinuria ( P=0,0001) were significantly and frequently found.As a result, M694V mutation has been detected in most of our patients as reported from other studies in turkish population. When the frequencies of mutations detected in our group were compared to the frequencies reported in the other regions of Turkey, an increase in R761H mutation frequency was observed. I692del mutation was not found in our patients. The common complaints were abdominal pain and recurrent fever. We although have based mainly on clinical suspicion, needs to be confirmed through detection of the corresponding mutation, that can be easily done using the simple stripassay technique.Key words: FMF, Familial Mediterranean fever, MEFV, phenotype?genotype correlation, amiloidosise-mail: scoskun9@gmail.com