ArticleMolecular biology reports2021
Presentation of a new mutation in FMF and evaluating the frequency of distribution of the MEFV gene mutation in our region with clinical findings.
Article in Molecular biology reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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17 citing papers in PubMed, 30 citations in OpenAlex.
- MEFV variant spectrum and exploratory in silico stratification of uncommon variants in 611 individuals tested for suspected familial Mediterranean fever in the Eastern Black Sea region of Türkiye.BMC genomic data · 2026Article
- Clinico-demographic and molecular characteristics of familial Mediterranean fever in Egypt: a multicenter study.Scientific reports · 2026Article
- 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
- Characterizing MEFV gene variants in Jordanian patients with Familial Mediterranean Fever.Human genomics · 2026Article
- Unresolved Issues in Familial Mediterranean Fever: Is p.R202Q MEFV Variant Potentially Pathogenetic in Unleashing Inflammation?Journal of clinical immunology · 2025Article
- Colitis in a patient with familial Mediterranean fever: Is it Crohn's disease or ulcerative colitis?DEN open · 2025Article
- Unexpectedly high prevalence of familial Mediterranean fever in Slovakia.Clinical and experimental medicine · 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
- Molecular analyses of MEFV gene mutation variants in Turkish population.Molecular biology reports · 2024Article
- Patient Experiences and Challenges in the Management of Autoinflammatory Diseases-Data from the International FMF & AID Global Association Survey.Journal of clinical medicine · 2024Article
- Article
- 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
- Recurrent Fever with Oral Lesions in Egyptian Children: A Familial Mediterranean Fever Diagnosis Not to Be Missed.Children (Basel, Switzerland) · 2022Article
- Sequence analysis in Familial Mediterranean Fever patients with no confirmatory genotype.Rheumatology international · 2022Article
- Clinical significance of MEFV gene variation R202Q.Clinical rheumatology · 2022Article
- Late-onset familial Mediterranean fever: A case series of missed diagnoses in pleural effusions.Sage open chronic diseaseArticle
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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 an autosomal recessive disease characterized by recurrent self-limiting fever, peritonitis, pleuritis, arthritis and erysipelas-like erythemas, has been common among ethnic groups such as Turkish, Armenian, Arabic and Jewish. The clinical presentation is caused by mutations in the MEFV gene encoding the Pyrin protein. In this study, we aimed to present a new mutation that has not been previously defined from the mutations in the MEFV gene which is responsible for the genetic pathology of familial Mediterranean fever and to evaluate the frequency of distribution of the MEFV gene mutation among different ethnic groups living in our region. In present retrospective study, a total of 2639 clinically suspected FMF patients who were referred to Hatay Mustafa Kemal University Hospital between 2010 and 2017 were recorded. MEFV gene mutations were observed using DNA sequence analysis. MEFV mutations were found in 2079 of the 2639 patients (78.7%) Among these patients 184 (6.97%) were homozygous, while 1365 (51.72%) were heterozygous. The most frequently observed mutation was R202Q (1319, 19.55%) followed by E148Q (n = 476, 7.05%), M694V (n = 439, 6.51%), V726A (n = 146, 2.16%) and M680I (n = 135, 2%). In a case clinically diagnosed as FMF, a new mutation called S145G (p. Ser145Gly, c.433A > G) was identified in exon 2 of the MEFV gene. Besides, addition of a new pathogenic MEFV variant to the literature, the relationship between the FMF clinic and homozygous form of R202Q, which was previously considered as a polymorphism, was highlighted.
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