Analysis of the MEFV Gene by NGS in Patients with Familial Mediterranean Fever: A Single Center Experience

Öz

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.

Anahtar Kelimeler

• Familial Mediterranean Fever
• FMF
• MEFV
• M694V
• E148Q

Ailevi Akdeniz Ateşi Hastalarında MEFV Geninin NGS ile Analizi: Tek Merkez Deneyimi

Öz

Amaç: Ailevi Akdeniz ateşi (FMF) Akdeniz ülkelerinde sıklıkla görülen, otoinflamatuar bir multisistem hastalıktır. MEFV geni, bu hastalıktan sorumlu tutulmuştur. Bu çalışmada FMF ön tanısı olan hastaların MEFV geninin araştırılması amaçlanmıştır. Materyal ve Metod: Bu retrospektif kohort çalışması 01.06.2018 – 01.07.2020 tarihleri arasında, Ankara Dışkapı Yıldırım Beyazıt Eğitim ve Araştırma Hastanesi, Tıbbi Genetik Bölümü’nde gerçekleşti. Çalışmada, FMF ön tanılı 220 hastanın Yeni Nesil Dizileme yöntemi ile araştırılmış olan MEFV genine ait bulguları değerlendirilmiştir. Bulgular: Çalışmadaki 220 hastanın (142 kadın, 78 erkek) yaş ortalaması 35,6±11,4 idi. Hastaların 131’nde (%0,59) MEFV geninde varyant tespit edildi. Allel sayıları ve frekansları değerlendirildiğinde en sık tespit edilen varyantlar sırasıyla M694V, V726A, M680I ve E148Q olarak belirlendi. Bu varyantların 152’si heterozigot, 20’si homozigot, 36’sı bileşik heterozigot ve 3’ü kompleks genotip durumundaydı. Sonuç: Çalışmamızın sonucunda elde edilen bulgular, Türkiye’den FMF hasta gruplarında daha önce bildirilen veriler ile uyumludur. Bu çalışma, Türkiye MEFV gen spektrumu verilerine katkı sağlayacaktır.

Anahtar Kelimeler

• Ailevi Akdeniz ateşi
• FMF
• MEFV
• M694V
• E148Q

Kaynakça

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