Common Familial Mediterranean Fever gene mutations in a Turkish cohort

Abstract

Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder with the responsible gene of MEFV which primarily affects Jewish, Armenian, Turkish and Arab populations. The FMF gene (MEFV) has recently been cloned to chromosome 16 p, which encodes pyrin. In the present study, we enrolled 2,067 unrelated patients with the suspicion of FMF in Middle Anatolia between the years 2006-2009 and identified the 12 MEFV mutations. DNA was amplified by PCR and subjected to reverse hybridization for the detection of MEFV gene mutations. Among the 2,067 patients, 866 (41.9%) were males and 1,201 (58.1%) were females. The mutations were homozygous in 176 (16.85%) patients, compound heterozygous in 314 (30.1%) patients, heterozygous in 546 (52.25%) patients and the other forms of mutations were found in 8 patients (0.76%). No mutation was detected in 1,023 (49.5%) patients. The most frequent mutations were M694V, M680I (G/C), E148Q and V726A. We could not find any significant differences between the two common mutations according to the gender. The high incidence of MEFV gene mutations in the Turkish population indicated that newborn screening may be discussed in the future. Because of the ethnic origin of Anatolia, larger serial analyses are necessary to investigate the rate and coexistence of these mutations.

Familial Mediterranean Fever

“…While exon 10 contains 4 principal mutations (M694V, V726A, M680I, M694I), exon 2 contains 1 mutations (E148Q). Pyrin/marenostrin encoded in MEFV gene plays a role in the regulation of the inflammation showing an autoregulator effect on leukocytes (20). In the study performed by Yilmaz et al, it was reported that in our country, 5 mutations including M694V, E148Q, M680I, V726I, M694I were common (21).…”

“…In the pediatric patients, the diagnosis is more comprehensive to avoid any delay. Genetic analysis is useful to confirm the diagnosis of FMF in the suspected patients who shows late-onset, atypical clinical symptoms without ethnic or familial history (20). However, mutation cannot be detected in some patients with FMF who responded to colchicine therapy (11).…”

Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system

“…The total frequency of M680I was 20.7% in this study, and very similar to the frequency of mutations at E148Q (21.1%). While mutations at M680I are the third and fourth most frequently reported in studies from the Aegean region (Berdeli at al., 2011), they were the second and third most frequent in studies from Central Anatolia (Dundar et al, 2011).…”

MEFV Mutation Frequency in Pediatric Patients with Familial Mediterranean Fever and its Relationship with Clinical Phenotypes in Marmara Region of Turkey

“…In another study performed by Dundar et al (29), the allele frequency was reported to be M694V 14.68%, M680I (G/C) 7.62%, E148Q 5.15%, and V726A 4.76%. In a study carried out on 153 FMF patients in Syria, the most prevalent mutations were in order of frequency, M694V (36.5%), V726A (15.2%), E148Q (14.5%), M680I (G/C) (13.2%), and M694I (10.2%) (30).…”