title: MEFV mutations in Northwest of Iran: a cross sectional study.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Medical records of 1330 Iranian Azerbaijanis who were diagnosed with FMF according to Tel-Hashomer criteria from May 2006 to April 2013 were reviewed and 10 MEFV mutations were found in affected individuals.
  
  
  RESULTS
  243 patients (18.27%) were homozygous, 370 (27.82%) were compound heterozygous and 717 (53.91%) were identified as heterozygous for one of the studied mutations. Of the studied mutations, M694V, E148Q, V726A, M680I, and M694I accounted for 42%, 21%, 19%, 14% and 2% of mutations respectively.
  
  
  CONCLUSIONS
  In our study, M694V was found to be the most prevalent mutation. M694I, 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, M680I is less common in our cohort.
authors: Faculty of Natural Sciences, Center of Excellence for Biodiversity, University of Tabriz, Tabriz, Iran.
authors: Morteza Jabbarpour
authors: MJ
authors: Bonyadi
authors: Gastrointestinal and Liver Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
authors: Sousan Mir Najd
authors: SM
authors: Gerami
authors: Gastrointestinal and Liver Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
authors: Mohammad Hossein
authors: MH
authors: Somi
authors: Hematology and Oncology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
authors: Saeed
authors: S
authors: Dastgiri
keywords: Familial mediterranean fever; Iranian azerbaijanis; M694V; MEFV mutation