Authors: AYŞENUR ÖZTÜRK, EZZAT ELSOBKY, SOLAF M. ELSAYED, MOSTAFA ALHODHOD, NEJAT AKAR
Abstract: Aim: Familial Mediterranean fever is an autosomal recessive disease affecting primarily populations surrounding the Mediterranean basin. The aim of this study was to find the distribution of MEFV gene mutations in a group of Egyptian patients with FMF and to evaluate any predictive genotype-phenotype correlation in this group of patients. Materials and Methods: The study included 112 patients (59 males and 53 females). Sequencing of the exon 10, exon 3, and exon 5 and PCR/RFLP analysis of E148Q and R202Q mutations of exon 2 of the MEFV gene were performed for all the patients according to a previously described technique. Results: Mutations in the MEFV gene were identified in 63 patients (56.25%). The most common mutation was M694I, which was detected in 9.8%, followed by V726A in 7.1%, E148Q in 5.8%, R202Q in 4.9%, M694V in 4.5%, M680I(G/C) in 3.1%, M680I(G/A) in 3.1%, and P706 in 2.6% of studied chromosomes. Conclusions: The mutation spectrum in Egyptian patients with FMF is heterogeneous. R202Q and P706 might be disease-causing mutations and should be further investigated in more patients in different populations.
Keywords: Familial Mediterranean fever (FMF), MEFV gene, Egypt
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