MEFV mutations in Northwest of Iran: a cross sectional study

Objective(s):Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. FMF affects mainly Mediterranean populations and is caused by mutations in the familial Mediterranean fever (MEFV) gene. The aim of this study was to identify the frequency and distribution of MEFV mutations in Iranian Azerbaijanis with FMF. Materials and Methods:Medical records of ۱۳۳۰ Iranian Azerbaijanis who were diagnosed with FMF according to Tel-Hashomer criteria from May ۲۰۰۶ to April ۲۰۱۳ were reviewed and ۱۰ MEFV mutations were found in affected individuals. Results:۲۴۳ patients (۱۸.۲۷%) were homozygous, ۳۷۰ (۲۷.۸۲%) were compound heterozygous and ۷۱۷ (۵۳.۹۱%) were identified as heterozygous for one of the studied mutations. Of the studied mutations, M۶۹۴V, E۱۴۸Q, V۷۲۶A, M۶۸۰I, and M۶۹۴I accounted for ۴۲%, ۲۱%, ۱۹%, ۱۴% and ۲% of mutations respectively. Conclusion:In our study, M۶۹۴V was found to be the most prevalent mutation. M۶۹۴I, the most common mutation among Arabs, is rare in this cohort. Allele frequencies of the common mutations in our studied population have some similarities to those of the Turkish population reported previously. However, M۶۸۰I is less common in our cohort.

Keywords:

Familial Mediterranean fever , Iranian azerbaijanis , M۶۹۴V , MEFV mutation