Prevalence of Familial Mediterranean Gene (MEFV) Mutations among children in Rajaei hospital

Introduction: Familial Mediterranean fever, one of the most prevalent periodic syndromes, is characterized by fever, abdominal pain, chest pain, and arthritis. The first episode of illness in FMF usually occurs in childhood or the teenage years. The aim of this study was to determine the frequency of MEFV gene mutations among FMF patients in Rajaei hospital in Iran Materials & Methods: Thirty patients with clinical signs of FMF were enrolled for genetic testing. DNA was extracted by salting out method. All coding regions of MEFV were amplified and sequenced. In silico analyses were also done.Results: Age of disease onset was under 4 years-old in 18 patients. Three variants were found in this study. Eleven of the patients were compound heterozygote, and for the rest of them no mutation was detected. In silico analyses predicted that these mutations are probably pathogenic.Conclusion & discussion: c.442G> C is the most common mutation in this study while c.2080A> G is more prevalent in other cohorts. Surprisingly family history was less that other studied populations. However, More studies are required to determine the mutation spectrum of MEFV among Iranian population

کلیدواژه ها:

Familial Mediterranean fever ، MEFV gene ، PCR ، mutation