Abstract
Background and objectives: Familial Mediterranean Fever (FMF) is an autosomal recessive disease. Generally, the Mediterranean basin is the region where the first cases of FMF have been identified. The gene responsible for FMF is gene MEFV. Disease occurs due to mutations in the gene MEFV. Our aim was to determine the geographical distribution of the most frequent mutations in Familial Mediterranean Fever Disease in the world.
Material and Methods: In this study, databases including Google Scholar, PubMed, Medline, Ovid, IranMedex, Irandoc, SID, Magiran and published papers were searched with no limitation in time. Then, all collected studies without any limitation were assessed to determine relevant studies. At the end, world map of the most frequent mutations of FMF was generated by Geographical Information System (GIS) software.
Results: Although more than 290 mutations of the MEFV gene have been described, only four mutations (M694V, M694I, V726A, and E148Q) were prevalent among patients with FMF.
Conclusion: The most frequent mutation associated with FMF mutation is M694V all over the world. E148Q mutation was found to be with mild clinical relevance.