ArticleAmerican journal of human genetics1999
Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 1 of them a synthesis that pooled it.
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58 citing papers in PubMed, 1 synthesis or guideline pooled it, 293 citations in OpenAlex.
- Guidelines for the genetic diagnosis of hereditary recurrent fevers.Annals of the rheumatic diseases · 2012Guideline
- Diagnostic validity of colchicine in patients with Familial Mediterranean fever.Clinical rheumatology · 2014Trial
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- Characterizing MEFV gene variants in Jordanian patients with Familial Mediterranean Fever.Human genomics · 2026Article
- Evaluation of bladder function in children with familial mediterranean fever and outcomes: A retrospective study.BMC urology · 2025Article
- Precision genomic profiling in Gaucher disease: insights from atypical presentations.Frontiers in genetics · 2025Article
- An Update on Familial Mediterranean Fever.International journal of molecular sciences · 2023Review
- The Comparison of Pediatric Patients with Familial Mediterranean Fever Originated from Turkey and Crimea.Turkish archives of pediatrics · 2022Article
- IL-1 and autoinflammatory disease: biology, pathogenesis and therapeutic targeting.Nature reviews. Rheumatology · 2022Review
- The PRY/SPRY domain of pyrin/TRIM20 interacts with βScientific reports · 2021Article
- History of the Plague: An Ancient Pandemic for the Age of COVID-19.The American journal of medicine · 2021Review
- Effectiveness of Canakinumab Treatment in Colchicine Resistant Familial Mediterranean Fever Cases.Frontiers in pediatrics · 2021Article
- Secondary Amyloidosis Presenting as Ischemic Proctitis.Case reports in gastrointestinal medicine · 2021Article
- Genome sequencing unveils mutational landscape of the familial Mediterranean fever: Potential implications of IL33/ST2 signalling.Journal of cellular and molecular medicine · 2020Article
- Symptomatic patients with P369S-R408Q mutations: familial Mediterranean fever or mixed auto-inflammatory syndrome?BMJ case reports · 2019Article
- Clinical features and disease severity of Turkish FMF children carrying E148Q mutation.Journal of clinical laboratory analysis · 2019Article
- The Pyrin Inflammasome in Health and Disease.Frontiers in immunology · 2019Review
- Long-term follow-up of paediatric MEFV carriers.Clinical rheumatology · 2018Article
- A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade.Case reports in rheumatology · 2018Article
- Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMF.Molecular genetics & genomic medicine · 2017Article
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14 authors at 5 institutions in 3 countries.
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Abstract
Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis. The FMF gene (MEFV) was cloned recently, and four missense mutations were identified. Here we present data from non-Ashkenazi Jewish and Arab patients in whom we had not originally found mutations and from a new, more ethnically diverse panel. Among 90 symptomatic mutation-positive individuals, 11 mutations accounted for 79% of carrier chromosomes. Of the two mutations that are novel, one alters the same residue (680) as a previously known mutation, and the other (P369S) is located in exon 3. Consistent with another recent report, the E148Q mutation was observed in patients of several ethnicities and on multiple microsatellite haplotypes, but haplotype data indicate an ancestral relationships between non-Jewish Italian and Ashkenazi Jewish patients with FMF and other affected populations. Among approximately 200 anonymous Ashkenazi Jewish DNA samples, the MEFV carrier frequency was 21%, with E148Q the most common mutation. Several lines of evidence indicate reduced penetrance among Ashkenazi Jews, especially for E148Q, P369S, and K695R. Nevertheless, E148Q helps account for recessive inheritance in an Ashkenazi family previously reported as an unusual case of dominantly inherited FMF. The presence of three frequent MEFV mutations in multiple Mediterranean populations strongly suggests a heterozygote advantage in this geographic region.
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