Frequencies of mefv gene mutations in iranian azeri fmf patients

Saba Dayemomid,1 Aziz khorrami,2 Shahin behrouz sharif ,3 Mahan narjabadifam,4 Seyyed vahid mohaddes ardebili,5 Seyyed mojtaba mohaddes ardebili,6,*

1. Drug Applied Research Center, Tabriz University of Medical Sciences
2. Department of Genetics, Faculty of Natural Sciences, University of Tabriz
3. Department of Human Genetics, Faculty of Medicine, Tabriz University of Medical Sciences
4. Department of Genetics, Faculty of Natural Sciences, University of Tabriz
5. Department of Genetics, Faculty of Natural Sciences, University of Tabriz
6. Department of Human Genetics, Faculty of Medicine, Tabriz University of Medical Sciences

Abstract

Introduction

Familial mediterranean fever (fmf), a periodic autoinflammatory disorder with autosomal recessive inheritance, is characterized by abdominal, chest, joints and muscular pains, fever, and arthritis. similar to other chronic inflammatory diseases, amyloidosis is the most severe complication of fmf that leads into renal failure. the responsible gene for this disease (mefv) comprises 10 exons and 781 codons. in the present study, we investigated mefv mutations in iranian azeri fmf patients.

Methods

132 suspected iranian azeri fmf patients with a mean age of 22 years were included in this study who demonstrated clinical features of fmf according to tel-hashomer criteria. exons 2,3,4,5, and 10 and intron-exon boundaries of mefv gene were analyzed using direct sanger sequencing method.

Results

70 individuals demonstrated mutations, of which 25.7% (18/70) were homozygote, 30% (21/70) compound heterozygote and 44.3% (31/70) heterozygote. the most prevalent mutation was m694v (36%), followed by v726a (21%), e148q (19%), m680i (18%), p369s(3%) and r408g(3%). the remaining symptomatic patients showed no mutation in analyzed regions.

Conclusion

The prevalence of m694v mutation in our population indicates its top priority in mutation detection of fmf patients that will be time and cost effective as first step of fmf diagnosis. moreover, the lack of mutation in certain fraction of patients might be due to the fact that our strategy does not encompass the whole sequence of mefv gene and rare mutations in other regions may be involved or other medical complications with similar clinical features might account for misdiagnosis of fmf patients.

Keywords

Fmf, m694v, e148q, sanger sequencing