ArticleRheumatology international2010
MEFV mutations in Egyptian patients suffering from familial Mediterranean fever: analysis of 12 gene mutations.
Article in Rheumatology international, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- Clinico-demographic and molecular characteristics of familial Mediterranean fever in Egypt: a multicenter study.Scientific reports · 2026Article
- Genotype Mutations in Egyptian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine.Mediterranean journal of rheumatology · 2020Article
- Rheumatology in Egypt: back to the future.Rheumatology international · 2019Review
- Serum IL 4 and its gene polymorphism (rs79071878) in Egyptian children with familial Mediterranean fever.Clinical rheumatology · 2018Article
- Patterns of Primary Immunodeficiency Disorders Among a Highly Consanguineous Population: Cairo University Pediatric Hospital's 5-Year Experience.Journal of clinical immunology · 2016Review
- Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations.Journal of genetics · 2016Article
- Bone Mineral Density in Egyptian Children with Familial Mediterranean Fever.Iranian journal of medical sciences · 2016Article
- FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis.Iranian journal of basic medical sciences · 2015Article
- MEFV mutations in Northwest of Iran: a cross sectional study.Iranian journal of basic medical sciences · 2015Article
- Frequencies of the Common MEFV Gene Mutations in Adiyaman, Southeast Anatolia, Turkey.Balkan journal of medical genetics : BJMG · 2014Article
- MEFV mutations in Egyptian children with systemic-onset juvenile idiopathic arthritis.Molecular diagnosis & therapy · 2014Article
- Familial Mediterranean fever: An unusual disease enlightening the inflammation biology.Indian journal of human genetics · 2014Article
- MEFV gene mutations in Egyptian children with Henoch-Schonlein purpura.Pediatric rheumatology online journal · 2014Article
- Phenotype-genotype updates from familial Mediterranean fever database registry of Mansoura University Children' Hospital, Mansoura, Egypt.Indian journal of human genetics · 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
- Molecular evaluation of 458 patients referred with a clinical diagnosis of familial Mediterranean fever in Scandinavia.Rheumatology international · 2011Article
- Common Familial Mediterranean Fever gene mutations in a Turkish cohort.Molecular biology reports · 2011Article
- Prevalence of MEFV gene mutations in a large cohort of patients with suspected familial Mediterranean fever in Central Anatolia.Annals of Saudi medicineArticle
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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
The objective of the study is to screen 12 MEFV gene mutations in Egyptian patients with familial Mediterranean fever (FMF) and to study the initial hypothesis that the phenotypic expression of the disease may be attributable to the existence of a particular mutation. We enrolled 136 Egyptian patients (74 males, and 62 females) with a clinical diagnosis of FMF. DNA was amplified by PCR and subjected to reverse hybridization for the detection of 12 MEFV gene mutations. The phenotypic expression of the disease was compared in two subgroups according to the presence of homozygote E148Q and M694V gene mutations. The most frequent gene mutations in the studied group were V726A, M694V, M680I, E148Q and M694I in 41.2, 32.4, 29.4, 25 and 20.6%, respectively. At least one of these main five founder mutations was present in 132 patients (97.1%). Thirty-two patients (23.5%) were homozygote for one of the main five founder mutations. The most common homozygote gene mutations were E148Q and M694V, each in 12 patients (8.8%). Significant increase in abdominal pain and arthritis was found in patients with homozygote M694V mutation compared to those with E148Q mutation. All patients with amyloidosis had M694V gene mutation. The increased frequency of V726A gene mutation and the rarity of amyloidosis in this study suggest that Egyptian patients may have a milder form of FMF compared to other populations. The five main founder mutations account for the vast majority of cases of FMF. M694V gene mutation may be associated with increased frequency of abdominal pain, arthritis and the presence of amyloidosis.
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