Spectrum of Mutations of Familial Mediterranean Fever Gene by Whole Sequencing Method in Iranian Patients

Background: Familial Mediterranean fever (FMF) is the most common type of periodic fever syndrome. The disease is most prevalentin the western Mediterranean population, but today it is widespread in the world due to the large ethnic migrations of Turks,Jews, Arabs and Armenians. The MEFV gene is the only gene known to be associated with the disease.Objectives: The aim of this study was to characterize pathogenic mutations in patients with typical FMF symptoms by sequencingthe entire MEFV gene.Methods: This is a descriptive-analytical study that was performed during ten years from ۲۰۰۹ to ۲۰۱۹. On ۲۵۲ patients after clinicaldiagnosis based on existing criteria to determine mutations referred to Tehran Medical Genetics Laboratory and the whole sequencingmethod for MEFV gene was used to determine mutations.Results: Out of ۲۵۲ patients, ۱۴۳ (۵۶.۷%) had pathogenic variants, and ۱۰۹ (۴۳.۳%) had no variants reported as pathogenic mutations.Variants were identified as fallow: (۱) ۸.۷% as homozygous; (۲) ۲۲.۲% as compound heterozygous; (۳) ۲۵.۷% as heterozygous. The mostcommon variants were M۶۹۴V (c.۲۰۸۰A>G) and E۱۴۸Q (c.۴۴۲G>C).Conclusions: This study showed that the age of onset of the disease was in the first and second decades of life amongst our patientsand the most common complaints of patients were periodic fever and abdominal pain. The most frequent allele was M۶۹۴V(c.۲۰۸۰A>G) followed by E۱۴۸Q (c.۴۴۲G>C) allele.

Keywords:

Common Mutations , MEFV Gene , Autosomal Recessive , Iranian Population , Familial Mediterranean Fever