ArticleMolecular biology reports2010
MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey.
Article in Molecular biology reports, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 54 citations in OpenAlex.
- Spectrum of MEFV variants in 8,252 patients from Eastern and Southeastern Anatolia: a large single-center cohort study (2019-2026).Pediatric rheumatology online journal · 2026Review
- The clinical significance of heterozygous E148Q variant in patients with familial Mediterranean fever.Clinical rheumatology · 2026Article
- Health-related quality of life in children with Familial Mediterranean Fever: a Pediatric Quality of Life Inventory-based evaluation with mutation-specific analysis.European journal of pediatrics · 2026Article
- Vasculitis as an indicator of disease severity in familial Mediterranean fever.Frontiers in immunology · 2025Article
- MEFV mutation frequencies in a Turkish cohort with low prevalence of familial Mediterranean feverTurkish journal of medical sciences · 2021Article
- Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings.Molecular biology reports · 2021Article
- The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of AnatoliaTurkish journal of medical sciences · 2019Article
- Increased Frequency ofBalkan journal of medical genetics : BJMG · 2017Article
- Is Turkish MEFV Mutations Spectrum Different Among Regions?Journal of clinical laboratory analysis · 2016Article
- Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.Journal of genetics · 2016Article
- Distribution of MEFV gene mutations and R202Q polymorphism in the Serbian population and their influence on oxidative stress and clinical manifestations of inflammation.Pediatric rheumatology online journal · 2016Article
- Frequency of mutations in Mediterranean fever gene, with gender and genotype-phenotype correlations in a Turkish population.Journal of genetics · 2015Article
- TLR2 and TLR4 gene expression levels and associated factors during acute attack and attack-free periods in familial Mediterranean fever.Clinical rheumatology · 2015Article
- The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey.Molecular biology reports · 2014Article
- Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.Molecular biology reports · 2014Article
- Whole genome sequence of a Turkish individual.PloS one · 2014Article
- Evaluating MEFV mutation frequency in Turkish familial Mediterranean fever suspected patients and gender correlation: a retrospective study.Molecular biology reports · 2012Article
- Common Familial Mediterranean Fever gene mutations in a Turkish cohort.Molecular biology reports · 2011Article
- Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers.Molecular biology reports · 2011Article
- A Case of Henoch-Schönlein Purpura with P369S Mutation in MEFV Gene.Iranian journal of pediatrics · 2011Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Mediterranean Fever (FMF) which is frequently present in Mediterranean populations is caused by mutations in the MEFV gene. According to recent data, MEFV mutations are not the only cause of FMF, but these are major genetic determinants which cause FMF. It has also been suggested that there may be a number of other genes causing FMF. The MEFV gene is located at 16p13.3 and encodes a protein, pyrin/marenostrin. More than 70 disease associated mutations and totally 186 mutations and polymorphisms have been defined in affected individuals. We have retrospectively evaluated the molecular test results of 1,201 patients identified as having FMF clinical symptoms referred to the Molecular Genetics Laboratory of the Department of Medical Genetics, Faculty of Medicine, Ege University, Izmir/Turkey over the last 4 years. Patients were tested for 12 common mutations in the MEFV gene using a strip assay method (Innogenetics, Belgium). Out of the 1,201 patients tested (2,402 chromosomes) in the Aegean region in Turkey, 654 (54.45%) did not carry any mutations, among the 547 (45.55%) patients with mutations 246 patients were either homozygous (101) or compound heterozygous (145), 296 carried only one detected mutation, and five patients had three mutations. Allelic frequencies for the four most common mutations in the mutation positive groups were 47.60% (M694V), 16.75% (E148Q), 12.95% (V726A), 11.94% (M680I G/C).The remaining alleles (10.76%) showed rare mutations which were R761H, P369S, A744S, K695R, F479L, M694I. When the frequencies of mutations detected in our group were compared to the frequencies reported in the other regions of Turkey, an increase in V726A mutation frequency was observed. No patient showed a I692del mutation which is sometimes evident in other Mediterranean populations.
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