ArticleMolecular biology reports2014
Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.
Article in Molecular biology reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- The clinical significance of heterozygous E148Q variant in patients with familial Mediterranean fever.Clinical rheumatology · 2026Article
- Age estimation of single nucleotide polymorphisms associated with autoinflammatory diseases in anatolia: insights from ancient and modern DNA.Human genetics · 2025Article
- Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium.Functional & integrative genomics · 2022Article
- Phenotypic characterization of Familial Mediterranean Fever patients harboring variants of uncertain significanceTurkish 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 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
- Increased Frequency ofBalkan journal of medical genetics : BJMG · 2017Article
- Frequency of mutations in Mediterranean fever gene, with gender and genotype-phenotype correlations in a Turkish population.Journal of genetics · 2015Article
- Genetic Profile of Patients with Familial Mediterranean Fever (FMF): Single Center Experience at King Hussein Medical Center (KHMC).Medical archives (Sarajevo, Bosnia and Herzegovina) · 2015Article
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11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial mediterranean fever (FMF) is an autosomal recessive autoinflammatory disorder (MIM# 249100), particularly common in populations of Mediterranean extraction. MEFV gene, responsible for FMF, encoding pyrin has recently been mapped to chromosome 16p13.3. In the present study, 3,341 unrelated patients with the suspicion of FMF in south-east part of Turkey between the years 2009 and 2013 were enrolled and genomic sequences of exon 2 and exon 10 of the MEFV gene were scanned for mutations by direct sequencing. We identified 43 different type of mutations and 9 of them were novel. DNA was amplified by PCR and subjected to direct sequencing for the detection of MEFV gene mutations. Among the 3,341 patients, 1,598 (47.8 %) were males and 1,743 (52.1 %) were females. The mutations were heterozygous in 806 (62.3 %), compound heterozygous in 188 (14.5 %), homozygous in 281 (21.8 %) and mutations had complex genotype in 17 (1.32 %) patients. No mutation was detected in 2,051 (61.4 %) patients. The most frequent mutations were M694V, E148Q, M680I(G/C) and V726A. We could not find any significant differences between the two common mutations according to the gender. Molecular diagnosis of MEFV is a useful tool in clinical practice, thus a future study relating to genotype/phenotype correlation of FMF in more and larger group in Turkish population involving the whole MEFV gene mutations is necessary.
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