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      https://www.ias.ac.in/article/fulltext/jgen/094/04/0629-0635

    • Keywords

       

      familial Mediterranean fever; 𝑀𝐸𝐹𝑉 gene; allelic frequencies; p.R761H; genotype–phenotype correlation.

    • Abstract

       

      Familial Mediterranean fever (FMF) is the most common hereditary inflammatory periodic disease, characterized by recurrent episodes of fever, abdominal pain, synovitis and pleurisy. The aim of this study was to determine the frequency and distribution of Mediterranean fever (𝑀𝐸𝐹𝑉) gene mutations and to investigate the clinical characteristics and genotype–phenotype correlation in patients with FMF in Aydın, a province in western Anatolia, Turkey. Therefore, we retrospectively analysed 𝑀𝐸𝐹𝑉 gene mutations in 383 patients with suspected FMF and the clinical features of 327 among them. The 𝑀𝐸𝐹𝑉 gene mutations were investigated using the reverse dot-blot hybridization technique. We detected 26 different genotypes and 11 different mutations. The most common mutations in our cohort were p.M694V (41.15%), p.E148Q (20.35%), p.M680I(G/C) (12.39%) and p.R761H (9.73%). Abdominal pain (86.2%), fever (80.7%), arthralgia (57.2%), vomiting (36.1%), arthritis (34.6%), fatigue (31.5%), anorexia (22.9%) and chest pain (19.0%) were the most prevalent clinical features in our patients. This is the first study from Aydın in which the distribution of 𝑀𝐸𝐹𝑉 gene mutations and clinical features were evaluated in patients with FMF. We found that the most common mutation was p.M694V in our region, while the frequency of the p.R761H mutation was higher compared to other regions of Turkey with respect to extracted data from previous similar studies. Presented results supported the clinical findings in the literature that the homozygous p.M694V and compound heterozygous genotype were associated with more severe courses in FMF patients.

    • Author Affiliations

       

      Salih Coşkun1 2 Serkan Kurtgöz3 2 Ece Keskin4 5 Ferah Sönmez6 Gökay Bozkurt2

      1. Medical Faculty, Department of Medical Genetics, Dicle University, 21280 Diyarbakır, Turkey
      2. Department of Medical Genetics, Adnan Menderes University, 09010 Aydın, Turkey
      3. Medical Faculty, Department of Medical Genetics, Süleyman Demirel University, 32260 Isparta, Turkey
      4. Department of Medical Genetics, Süleymaniye Education and Training Hospital, 34116 Istanbul, Turkey
      5. Department of Medical Genetics, Süleyman Demirel University, 32260 Isparta, Turkey
      6. Medical Faculty, Department of Pediatrics, Adnan Menderes University, 09010 Aydın, Turkey
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