Molecular Diagnosis Experience in Familial Mediterranean Fever: The Most Frequent Mutations in the MEFV Gene

Abstract

Aim: Familial Mediterranean Fever (FMF) is the most frequent and historically the oldest autosomal recessive autoinflammatory disorder. No pathogen or auto-antibody has been shown to be associated with FMF. The disorder manifests with bouts of fever and abdominal pain, which are called “attacks”. In the present study, we aimed to find the most frequent mutations in the MEFV gene in the Turkish population. Methods: Thousand eight hundred and forty patients with an initial diagnosis of FMF were enrolled in the study. DNA was extracted from the peripheral blood according to the kit protocol. Twenty-two target sequences of the MEFV gene were amplified with polimeraze chain reaction and sequenced with the pyrosequencing method. Results: When the patients were divided into two groups according to age, the mean age of 866 patients was 8.5±7.5 years in <18 age group, and that of 974 patients was 35.4±12.5 years in ≥18 age group. No mutations associated with FMF were found in 547 of patients in <18 age and 479 of the patients in ≥18 age groups. Conclusion: In the present study, we evaluated the frequency of 22 mutations in MEFV in 1840 patients, who had been admitted to the medical genetics division between the years 2014 and 2016 with an initial diagnosis of FMF. Analysis of our findings showed that our data are in agreement with previous publications concerning Turkish population.

Keywords

• Familial Mediterranean Fever
• MEFV gene
• pyrosequencing
• mutation