ArticleEuropean journal of pediatrics2024
E148Q variant: a familial Mediterranean fever-causing mutation or a sequence variant?
Article in European journal of pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Sharp recanalization of extensive multilevel central venous occlusions in a young patient with familial Mediterranean fever: A case report.Radiology case reports · 2026Article
- Clinico-demographic and molecular characteristics of familial Mediterranean fever in Egypt: a multicenter study.Scientific reports · 2026Article
- The clinical significance of heterozygous E148Q variant in patients with familial Mediterranean fever.Clinical rheumatology · 2026Article
- Relationship Between Clinical Manifestations of Acute Rheumatic Fever and Mutations in the FMF-AssociatedChildren (Basel, Switzerland) · 2026Article
- Characterizing MEFV gene variants in Jordanian patients with Familial Mediterranean Fever.Human genomics · 2026Article
- Epigenetic and Inflammatory Signatures in Familial Mediterranean Fever: Implication of miR-204-3p and miR-223-3p in Pyrin-Mediated Immune Regulation.Journal of clinical medicine · 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
- Genetic and clinical features of familial Mediterranean fever in a cohort of patients with kidney failure.Journal of nephrology · 2025Article
- Case Report: Diagnostic difficulties, treatment, and association of the MEFV E148Q variant in a patient with PASH syndrome.Frontiers in medicine · 2025Article
- Concomitant Systemic Autoinflammatory Diseases:Sultan Qaboos University medical journal · 2025Article
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8 authors.
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Abstract
Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease, linked to mutations in the MEFV gene. The p.E148Q variant, found on exon 2, has an uncertain role in FMF, with debates on whether it is a benign polymorphism or a pathogenic mutation. This study aimed to assess the clinical characteristics and severity of FMF in patients homozygous for the p.E148Q variant and to evaluate the impact of the p.V726A variant in these patients. This retrospective cohort study analyzed data from electronic medical records at Carmel Medical Center, Israel. Patients who underwent genetic testing for FMF from November 2004 to December 2019 and had p.E148Q/p.E148Q or p.E148Q/p.E148Q + p.V726A variants were included. Disease severity was assessed using the Tel Hashomer Key to Severity Score. Statistical analyses compared clinical characteristics and severity between genotype groups. The study included 61 FMF patients, with 24 (39%) having p.E148Q/p.E148Q and 37 (61%) having p.E148Q/p.E148Q + p.V726A variants. The majority (72%) were Druze. Most patients (65.5%) exhibited mild disease, while 31.1% had moderate disease, with no cases of severe disease. Colchicine treatment significantly reduced CRP levels in all patients.
conclusionThese findings suggest that the p.E148Q variant, whether alone or with p.V726A, generally results in mild to moderate FMF severity, supporting its pathogenic role in particular ethnicity. These results contribute to understanding the clinical significance of the p.E148Q variant and considering the patient's need for Colchicine treatment. WHAT IS KNOWN: • The role of the p.E148Q variant in FMF is debated, with questions about whether it is a benign polymorphism or a pathogenic mutation. • The prevalence of MEFV variants can vary significantly among different ethnic groups. WHAT IS NEW: • The p.E148Q variant has clinical significance in particular ethnicities, as supported by a significant reduction in CRP levels following colchicine treatment. • The p.E148Q variant, whether alone or with p.V726A, generally results in mild to moderate FMF severity.
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