ArticleMolecular biology reports2011
Common Familial Mediterranean Fever gene mutations in a Turkish cohort.
Article in Molecular biology reports, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed, 64 citations in OpenAlex.
- The clinical significance of heterozygous E148Q variant in patients with familial Mediterranean fever.Clinical rheumatology · 2026Article
- Retinal changes in children with Familial Mediterranean Fever: the effect of chronic subclinical inflammation.Pediatric research · 2026Article
- Serum resistin levels in pediatric familial Mediterranean fever: Potential biomarker for inflammatory activity.World journal of clinical pediatrics · 2025Article
- Vascular characteristics of pediatric patients with familial Mediterranean fever: a study of optical coherence tomography angiography findings.Japanese journal of ophthalmology · 2025Observational
- Evaluation of renal elasticity by shear wave elastography in children with Familial Mediterranean Fever.Pediatric nephrology (Berlin, Germany) · 2025Article
- Increasing Importance of Genotype-Phenotype Correlations Associated with Common and Rare MEFV Gene Mutations in FMF Patients in the Last Thirty Years.Journal of clinical medicine · 2025Article
- Updates on the role of epigenetics in familial mediterranean fever (FMF).Orphanet journal of rare diseases · 2024Review
- R202Q prevalence in clinically diagnosed Familial Mediterranean Fever patients: 9 years of data analysis from 1570 patients living Central Black Sea region, Turkey.Irish journal of medical science · 2023Article
- Renal involvement, presence of amyloidosis, and genotype-phenotype relationship in pediatric patients with Familial Mediterranean fever: a single center study.European journal of pediatrics · 2023Article
- Clinical and genetic characterization of familial Mediterranean fever among a cohort of Egyptian patients.Przeglad gastroenterologiczny · 2022Article
- 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
- Spectrum ofMedical sciences (Basel, Switzerland) · 2020Article
- A comprehensive molecular analysis and genotype-phenotype correlation in patients with familial mediterranean fever.Molecular biology reports · 2020Article
- The Spectrum of MEFV Gene Mutations and Genotypes in the Middle Northern Region of Turkey.The Eurasian journal of medicine · 2019Article
- The distribution of MEFV mutations in Turkish FMF patients: multicenter study representing results of AnatoliaTurkish journal of medical sciences · 2019Article
- Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study.International journal of inflammation · 2019Article
- Does thiol-disulphide balance show oxidative stress in different MEFV mutations?Rheumatology international · 2018Article
- Future of Rehabilitation Interventions for Rheumatic Patients in the Mediterranean Region.Mediterranean journal of rheumatology · 2017Review
- Familial Mediterranean fever presenting as fever of unknown origin in Korea.Korean journal of pediatrics · 2016Article
- Is Turkish MEFV Mutations Spectrum Different Among Regions?Journal of clinical laboratory analysis · 2016Article
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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) 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.
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