Familial Mediterranean fever in children from the Aegean region of Turkey: gene mutation frequencies and phenotype genotype correlation

Abstract

Background/aim: Familial Mediterranean fever (FMF) is diagnosed by fever episodes with sterile peritonitis, arthritis, pleurisy, anderysipelas-like erythema. The relationship between phenotype and genotype in FMF has not been adequately explained. The aim of thisstudy was to characterize the phenotype and genotype correlation in FMF. Materials and methods: Clinical diagnosis of FMF was conducted according to the Tel Hashomer criteria. Pras scoring was used todetermine clinical severity. FMF strip assay analysis was used, and the hotspot regions were observed with PCR amplification andautomatic DNA sequence analysis method. Results: We showed commonly seen mutations (most frequently M694V) in a study group of 191 patients. The disease severity score ofpatients with M694V mutation was high on the Pras scoring system. Patients with M694V mutation needed high colchicine dosages tocontrol disease activity. R202Q was the most commonly seen polymorphism in 70 patients. The coexpression of R314R single nucleotidepolymorphism on third exon was shown in our study. Moreover, D102D, G138G, and A165A subhaplotypes and E474E, Q476Q, andD510D subhaplotypes were also shown. Conclusion: DNA sequence analysis should be a commonly used method for progress in the field of molecular genetics and for thebetter understanding of the FMF phenotype and genotype relationships in all populations.