Şebnem ÖZEMRİ SAĞ, Adem ALEMDAR, Lamiya ALİYEVA, Niyazi KAYA, Şehime G TEMEL

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

Amaç Ailesel Akdeniz Ateşi (FMF) olası tanısı olan hastalarda MEFV gen mutasyon varyantlarının sıklığı ve dağılımını değerlendirmeyi amaçladık. Gereç ve Yöntem Eylül 2018 ve Eylül 2019 arasında FMF hedef mutasyon analizi yapılan hastalar retrospektif olarak incelendi. Yirmi altı farklı MEFV gen mutasyon varyantı incelendi. Çalışma katılımcılarının demografik ve klinik verileri hasta listelerinden ve hastane elektronik veri tabanı sisteminden toplanmıştır. Bulgular Refere edilen 910 hastanın 350'sinde (%38.5) FMF mutasyonu pozitif bulundu. Toplamda, MEFV geninde 41 farklı genotip ve 26 farklı mutasyon tespit ettik. En yaygın mutasyon ve genotip sırasıyla M694V ve heterozigot M694V idi. İki yüz yetmiş altı hastada (%78.9) tek bir mutasyon vardı. Yetmiş dört hastada bileşik heterozigot mutasyon vardı (%21.1). En yaygın bileşik heterozigot mutasyon P369S/R408Q (%23.3) idi. Beş kurucu mutasyon, tespit edilen tüm mutasyonların yüzde yetmiş beşini oluşturdu. Genel olarak diğer çalışmalarda incelenmeyen nadir mutasyonlar 15 hastada (% 4.2) iki farklı bileşik heterozigot genotip formunda mevcuttu. Bu nadir mutasyonların toplam alel sıklığı %5 idi. Sonuç Bu çalışmada, MEFV mutasyonlarının genişletilmiş bir panelini inceledik ve literatürde Türk hastalarda yapılan önceki çalışmaların çoğundan daha kompleks genotipler tespit ettik.

Anahtar Kelimeler:

Ailesel Akdeniz Ateşi, MEFV, Mutasyon, M694V

Frequency and Distribution of MEFV Gene Mutation in Familial Mediterranean Fever Patients: A Single Center Experience

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.

Keywords:

Familial Mediterranean Fever, ; MEFV, Mutation, M694V,

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