title: Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance.
abstract: The aim of our study was to determine the spectrum of the 12 most common familial Mediterranean fever gene (MEFV) mutations in Iranian patients with heterogeneous ethnicity, using the familial Mediterranean fever (FMF) strip assay test. A total of 36 patients were diagnosed according to established clinical criteria. Genomic DNA from all patients was tested for 12 common mutations located in exon 2 (E148Q), 3 (P369S), 5 (F479L), 10 [M680I (G>C), M680I (G>A), I692del, M694V, M694I, K695R, V726A, A744S, R761H], respectively, using the FMF strip assay test. Of the 35 patients with mutations, ten were homozygote, 20 were compound heterozygote, and five were heterozygote. The most frequent genotype was M680I/M680I (6 patients, 16.7%). The most frequent mutation was M680I, followed by M694V, and V726A. The FMF strip assay test for common these 12 mutations was positive in 90.6% of alleles in this study, indicating that it appears to be an effective method for FMF mutation screening in Iranian patients.
authors.affiliation: Department of Rheumatology, Iran University of Medical Sciences, Tehran, Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Bidari
authors.forename: Banafsheh
authors.initials: B
authors.lastname: Ghavidel-Parsa
authors.forename: Hossein
authors.initials: H
authors.lastname: Najmabadi
authors.forename: Elham
authors.initials: E
authors.lastname: Talachian
authors.forename: Majid
authors.initials: M
authors.lastname: Haghighat-Shoar
authors.forename: Behrooz
authors.initials: B
authors.lastname: Broumand
authors.forename: Babak
authors.initials: B
authors.lastname: Ghalehbaghi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000235:genetics* / Q000473:pathology; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007492:Iran; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000071198:Pyrin; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin