Ailesel Akdeniz Ateşi Hastalarında MEFV Gen Mutasyonunun Sıklığı ve Dağılımı: Tek Merkez Deneyimi

Abstract

Objective We aimed to evaluate frequency and distribution MEFV gene mutation variants in patients with presumptive diagnosis of Familial Mediterranean Fever (FMF). Material and Methods Patients who had undergone FMF targeted mutation analysis between September 2018 and September 2019 were retrospectively analyzed. Twenty-six distinct MEFV gene mutation variants were studied. Demographic and clinical data of study participants were collected from patient charts and hospital electronic database system. Results Out of 910 referred patients, 350 (38.5%) were found to have a positive FMF mutation. In total, we detected 41 different genotypes and 26 different mutations in MEFV gene. The most common mutation and genotype were M694V and heterozygous M694V, respectively. Two hundred and seventy-six patients (78.9%) had a single mutation. Seventy-four patients had compound heterozygous mutation (21.1%). The most common compound heterozygous mutation was P369S/R408Q (23.3%). Five founder mutations constituted the seventy-five percent of the all mutations detected. Rare mutations that generally not examined in other studies were present in 15 patients (%4.2) in the form of two different compound heterozygous genotype. The total allele frequency of these rare mutations was 5%. Conclusion In this study, we examined an extended panel of MEFV mutations and detected more complex genotypes than most of the previous studies conducted in Turkish patients in the literature.