ArticleClinical rheumatology2008
A very frequent mutation and remarkable association of R761H with M694V mutations in Turkish familial Mediterranean fever patients.
Article in Clinical rheumatology, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 33 citations in OpenAlex.
- 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
- Molecular Patterns of MEFV Gene Mutations in Egyptian Patients with Familial Mediterranean Fever: A Retrospective Cohort Study.International journal of inflammation · 2019Article
- Is Turkish MEFV Mutations Spectrum Different Among Regions?Journal of clinical laboratory analysis · 2016Article
- Frequency of mutations in Mediterranean fever gene, with gender and genotype-phenotype correlations in a Turkish population.Journal of genetics · 2015Article
- FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis.Iranian journal of basic medical sciences · 2015Article
- MEFV mutations in Northwest of Iran: a cross sectional study.Iranian journal of basic medical sciences · 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
- Common Familial Mediterranean Fever gene mutations in a Turkish cohort.Molecular biology reports · 2011Article
- [MEFV gene mutation spectrum in familial Mediterranean fever (FMF) : a single center study in the Aegean region of Turkey].Zeitschrift fur Rheumatologie · 2011Article
- Prevalence of known mutations in the MEFV gene in a population screening with high rate of carriers.Molecular biology reports · 2011Article
- High frequency of MEFV gene mutations in patients with myeloid neoplasm.International journal of hematology · 2010Article
- Demographic, clinical and mutational characteristics of Turkish familial Mediterranean fever patients: results of a single center in Central Anatolia.Rheumatology international · 2010Article
- MEFV mutations in patients with Familial Mediterranean Fever from the Aegean region of Turkey.Molecular biology reports · 2010Article
- A molecular analysis of familial Mediterranean fever disease in a cohort of Turkish patients.Annals of Saudi medicineArticle
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Mediterranean fever (FMF) is an autosomal-recessive disease. It is characterized by recurring fever, abdominal pain, and serositis. The Mediterranean fever (MEFV) gene is localized on 16p13.3 and more than 35 mutations have been described to date. There are some differences in the gene mutations of FMF in the various ethnic groups. The aim of this study is to determine the frequency of the mutations which has been reported comparatively rare, to define the most effective mutation set, and to select the most suitable DNA analysis system for Turkish FMF patients. Mutations in 330 Turkish FMF patients with typical phenotypes from various regions of Turkey were evaluated for the research purposes. These patients were analyzed for six MEFV gene mutations by the NanoChip Molecular Genetics Workstation. The most frequent mutation was M694V, identified in 50.00% of the alleles examined; M680I followed with 14.10% and V726A--9.70%. Consequently, we determined that R761H (n = 23; 3.48%) was the most frequent rare mutations in Turkish FMF patients. Frequency of the rare mutations were R761H (3.48%), E148Q (1.36%), and M694I (1.21%). All of these mutations were in the compound heterozygote state. Our study showed that R761H mutations were higher than it has been reported in literature until now and were mainly associated with M694V. We suggest that mutation R761H should be included in the mutation scanning analysis researches or considered if the patient has M694V/? mutation especially in Turkish FMF patients. Larger serial studies need to be done to investigate the rate and coexistence of these mutations.
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