ArticleArthritis and rheumatism2009
Clinical disease among patients heterozygous for familial Mediterranean fever.
Article in Arthritis and rheumatism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers, 1 of them a synthesis that pooled it.
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Who cites it
88 citing papers in PubMed, 1 synthesis or guideline pooled it, 213 citations in OpenAlex.
- Guidelines for the genetic diagnosis of hereditary recurrent fevers.Annals of the rheumatic diseases · 2012Guideline
- Adults with septic shock and extreme hyperferritinemia exhibit pathogenic immune variation.Genes and immunity · 2019Trial
- Musculoskeletal manifestations occur predominantly in patients with later-onset familial Mediterranean fever: Data from a multicenter, prospective national cohort study in Japan.Arthritis research & therapy · 2018Trial
- Long-term clinical course of pediatric familial Mediterranean fever with heterozygous pathogenic MEFV exon 10 variants.European journal of pediatrics · 2026Article
- 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
- Clinical Association of Pan-Immune-Inflammation Value with MEFV Mutation Burden and Amyloidosis in Adults with Familial Mediterranean Fever: A Retrospective Cohort Study.Journal of clinical medicine · 2026Article
- [An unusual cause for kidney transplantation].Innere Medizin (Heidelberg, Germany) · 2026Article
- Impact of MEFV mutations on inflammatory activity and long-term relapse in pediatric IgA vasculitis.BMC pediatrics · 2026Article
- Familial Mediterranean Fever: A Comprehensive Review of Pathogenesis, Genetics, and Epigenetic Regulation.Balkan medical journal · 2026Review
- Familial Mediterranean Fever; Recent Advances, Future Prospectives.Diagnostics (Basel, Switzerland) · 2025Review
- The journey of MEFV heterozygous children: with or without colchicine.European journal of pediatrics · 2024Article
- Inflammatory biomarker analysis confirms reduced disease severity in heterozygous patients with familial Mediterranean fever.RMD open · 2024Article
- Genetically transitional disease: conceptual understanding and applicability to rheumatic disease.Nature reviews. Rheumatology · 2024Review
- 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
- Treat-to-target strategies for the management of familial Mediterranean Fever in children.Pediatric rheumatology online journal · 2023Article
- The Spectrum of the Heterozygous Effect in Biallelic Mendelian Diseases-The Symptomatic Heterozygote Issue.Genes · 2023Review
- Evaluating of colchicine use patterns and attack frequency of familial Mediterranean fever patients in the COVID-19 pandemic.International journal of rheumatic diseases · 2023Article
- Implications of combinedFrontiers in immunology · 2023Article
- Screening for Fabry's disease in a high-risk subpopulation of FMF.European journal of medical research · 2022Article
28 more citing papers are in PubMed but not listed here.
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo define the molecular basis of familial Mediterranean fever (FMF) in patients with only 1 mutation in the MEFV gene.
methodsGenetic analysis was performed in 20 FMF patients, including full sequencing of complementary DNA (cDNA) samples and multiplex ligation-dependent probe amplification analysis. In patients with first-degree relatives with FMF, haplotype analysis was also performed.
resultsA second mutation was found in 2 patients. In the other 18 patients, we could not identify additional mutations, large genomic deletions, or duplications. Analysis of single-nucleotide polymorphisms along the cDNA ruled out a lack of expression of 1 of the alleles. In 2 of the 3 families in which more than 1 sibling had FMF, we showed that the affected siblings inherited a different MEFV allele from the parent who did not have the MEFV mutation.
conclusionThese findings are highly consistent with the existence of a clinical phenotype among some patients who are heterozygous for FMF and could explain the vertical transmission in some families. A single mutation in the MEFV gene may be much more common than was previously thought and may include up to 25% of patients who are diagnosed as having FMF.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.