Spectrum of Mutations of Familial Mediterranean Fever Gene in Iranian Population

Abstract: Familial Mediterranean fever is a genetic disease that is caused by the MEFV gene. Our study was based on clinical manifestations of recurrent attacks of fever and inflammation and distribution of MEFV mutations in an Iranian patient using a comprehensive mutation detection method. Methods: Eighty-five clinically diagnosed FMF patients from university hospitals who were referred to the Department of Genetics for molecular diagnosis of FMF. Results: Mutations in one allele and in both alleles were identified in 33 (39%) and 34 (40%) patients respectively and no mutation could be detected in 18 (21%). The most common mutation was M694V (21%). Other mutations accounted for a further 38% of the alleles: E148Q (11%), M694I (11%), M680I (6%), V726A (4%), R761H (5%). In this study, two rare mutations were found in two patients from Zanjan province in exon 10 in codons: A744S and K695R with the frequency of 1.1% each. Conclusions: The most frequent mutations were detected in three codons: M694V and M694I in exon 10 with 27.3% and 16.6% respectively and codon E148Q in exon 2 with 15.4%. Our data suggests that E148Q has a more dominant pattern of inheritance with reduced penetrance and M680I, M694V and M694I mutations have a more recessive pattern of inheritance. Key words: FMF, MEFV Gene, Iranian Ethnicity