ArticleAnnals of the rheumatic diseases2004
Non-isotopic RNase cleavage assay for mutation detection in MEFV, the gene responsible for familial Mediterranean fever, in a cohort of Greek patients.
Article in Annals of the rheumatic diseases, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 44 citations in OpenAlex.
- Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q MEFV Variant Potentially Pathogenetic in Unleashing Inflammation?Journal of clinical immunology · 2025Article
- Familial Mediterranean Fever in a 28-Year-Old Male Presented as a Painless Massive Pleural Effusion.Cureus · 2023Article
- Recurrent Fever with Oral Lesions in Egyptian Children: A Familial Mediterranean Fever Diagnosis Not to Be Missed.Children (Basel, Switzerland) · 2022Article
- Clinical significance of MEFV gene variation R202Q.Clinical rheumatology · 2022Article
- Sequence analysis in Familial Mediterranean Fever patients with no confirmatory genotype.Rheumatology international · 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
- The Spectrum of MEFV Gene Mutations and Genotypes in the Middle Northern Region of Turkey.The Eurasian journal of medicine · 2019Article
- Severe liver involvement in two patients with long-term history of fever: remember familial Mediterranean fever.BMJ case reports · 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
- Clinical evaluation of R202Q alteration of MEFV genes in Turkish children.Clinical rheumatology · 2014Article
- Fever of unknown origin in a haemodialysis patient: a late diagnosis requiring a novel treatment.Clinical kidney journal · 2014Article
- Screening of common and novel familial mediterranean fever mutations in south-east part of Turkey.Molecular biology reports · 2014Article
- The expanded clinical profile and the efficacy of colchicine therapy in Egyptian children suffering from familial Mediterranean fever: a descriptive study.Italian journal of pediatrics · 2012Article
- Genetic analysis of C5a receptors in neutrophils from patients with familial Mediterranean fever.Molecular biology reports · 2012Article
- MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.Rheumatology international · 2010Article
- MEFV heterogeneity in Turkish Familial Mediterranean Fever patients.Molecular biology reports · 2010Article
- Missense mutations in the MEFV gene are associated with fibromyalgia syndrome and correlate with elevated IL-1beta plasma levels.PloS one · 2009Article
- A novel mutation of the familial Mediterranean fever gene in a Greek family related to a non-classical, variably expressed FMF phenotype.Rheumatology international · 2007Article
- Increased frequency of mutations in the gene responsible for familial Mediterranean fever (MEFV) in a cohort of patients with ulcerative colitis: evidence for a potential disease-modifying effect?Digestive diseases and sciences · 2006Article
- 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
13 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe MEFV gene is responsible for familial Mediterranean fever (FMF). Several disease associated mutations have been identified. The range of genetic variation in MEFV in Greek patients has not been determined.
objectiveTo describe a method that facilitates the routine screening of the entire coding sequence of MEFV (excluding exon 1).
methodsThe non-isotopic RNase cleavage assay (NIRCA) was optimised and used as a first step screening method to screen exons 2 to 10 of MEFV. Exons 2 and 10 were analysed separately at DNA level, while exons 3 to 9 were analysed together at cDNA level. The sample group consisted of 26 FMF patients diagnosed using established clinical criteria, six asymptomatic relatives, 12 patients with atypical clinical manifestations, nine patients suffering from various inflammatory diseases, and three normal individuals. All were analysed by NIRCA for mutations in the MEFV gene and direct sequencing was applied subsequently to confirm the results.
resultsMEFV mutations were identified in 25 of 26 typical FMF patients and in two of 12 patients with atypical manifestations. NIRCA results were in concordance with sequencing findings in all sequences analysed, suggesting that the method is highly reliable in this disease. Sixteen alterations of MEFV were identified (eight missense mutations and eight single nucleotide polymorphisms).
conclusionsNIRCA can be used for rapid screening of the coding sequence of the MEFV gene in patients suspected of suffering from FMF.
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