ArticleAmerican journal of human genetics1999
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.
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 61 papers.
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Who cites it
61 citing papers in PubMed, 259 citations in OpenAlex.
- Clinical and genetic characteristics of adult patients with familial Mediterranean fever at a German tertiary referral centre.BMC rheumatology · 2026Article
- Cardiovascular Risk and Bone Mineral Density in Children with Familial Mediterranean Fever: The Role of Disease Severity and Genetic Mutations.International journal of molecular sciences · 2026Article
- Comparative analysis of exon 10 and non-exon 10 variants in children with familial mediterranean fever: a retrospective cohort study.European journal of pediatrics · 2026Article
- The clinical significance of the Mediterranean fever gene MEFV variants in Castleman disease.Communications medicine · 2026Article
- Monogenic disorders of immunity: Common variants are not so rare.Cell genomics · 2026Review
- A Unique Complex Variation Profile in a Patient with Familial Mediterranean Fever (FMF): Triple Homozygous E148Q-P369S-R408Q - "Case Report".The application of clinical genetics · 2025Article
- E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?European journal of pediatrics · 2024Article
- Heterozygous MEFV Mutation Leading to Renal Failure: A Case Study.Global pediatric health · 2024Article
- Article
- An Update on Familial Mediterranean Fever.International journal of molecular sciences · 2023Review
- Genotype-phenotype associations in familial Mediterranean fever: a study of 500 Egyptian pediatric patients.Clinical rheumatology · 2022Article
- A recurrent side-changing febrile pleural effusion revealing familial Mediterranean fever: a case report.The Pan African medical journal · 2022Article
- Inborn error of immunity as the cause of recurrent pericarditis.BMJ case reports · 2021Article
- Atypical Autosomal-Dominant Inheritance of Familial Mediterranean Fever.ACG case reports journal · 2021Article
- Secondary Amyloidosis Presenting as Ischemic Proctitis.Case reports in gastrointestinal medicine · 2021Article
- Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- ProbioticFrontiers in immunology · 2018Article
- Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management.Frontiers in immunology · 2017Review
- Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.Journal of genetics · 2016Article
- [Autoinflammatory syndromes : Practical approach to diagnostics and therapy].Zeitschrift fur Rheumatologie · 2016Review
1 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Mediterranean fever (FMF) is a recessively inherited disorder that is common in patients of Armenian ancestry. To date, its diagnosis, which can be made only retrospectively, is one of exclusion, based entirely on nonspecific clinical signs that result from serosal inflammation and that may lead to unnecessary surgery. Renal amyloidosis, prevented by colchicine, is the most severe complication of FMF, a disorder associated with mutations in the MEFV gene. To evaluate the diagnostic and prognostic value of MEFV-gene analysis, we investigated 90 Armenian FMF patients from 77 unrelated families that were not selected through genetic-linkage analysis. Eight mutations, one of which (R408Q) is new, were found to account for 93% of the 163 independent FMF alleles, with both FMF alleles identified in 89% of the patients. In several instances, family studies provided molecular evidence for pseudodominant transmission and incomplete penetrance of the disease phenotype. The M694V homozygous genotype was found to be associated with a higher prevalence of renal amyloidosis and arthritis, compared with other genotypes (P=.0002 and P=.006, respectively). The demonstration of both the diagnostic and prognostic value of MEFV analysis and particular modes of inheritance should lead to new ways for management of FMF-including genetic counseling and therapeutic decisions in affected families.
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