Abstract:

Background: Familial Mediterranean fever (FMF) is an autoinflammatory multisystemic disease common seen in Mediterranean countries. The MEFV gene has been implicated in the disease. In this study, it was aimed to investigate the MEFV gene of patients with a pre-diagnosis of FMF by using NGS method. Materials and Methods: This retrospective study was held between 01.06.2018 - 01.07.2020 in Ankara Dışkapı Yıldırım Beyazıt Training and Research Hospital, Department of Medical Genetics. In this study, the findings of the MEFV gene of 220 patients with a pre-diagnosis of FMF, which were investigated by Next Generation Sequencing method, were evaluated. Results: The mean age of 220 patients (142 women, 78 men) in the study was 35.6 ± 11.4 years. Variant was detected in the MEFV gene in 131 (59%) of the patients. When allele numbers and frequencies were evaluated, the most frequently detected variants were M694V, V726A, M680I and E148Q, respectively. Of these variants, 152 were heterozygous, 20 were homozygous, 36 were compound heterozygous, and 3 were complex genotypes. Conclusion: The findings obtained in this study are consistent with data reported previously in patients with FMF group from Turkey. The performed NGS analysis made it possible to detect rare variants as well as the MEFV gene variants frequently observed in FMF patients. This work will contribute to the FMF gene Turkey spectral data.

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