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The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant?
E Ben-Chetrit1, I Lerer, E Malamud
1Department of Medicine A, Hadassah Hebrew University, Jerusalem, Israel. Eldad@hadassah.org.il
Human Mutation
|March 29, 2000
Summary
The E148Q variant in the MEFV gene is frequently found in healthy individuals, suggesting it is a benign polymorphism, not a disease-causing mutation for Familial Mediterranean Fever (FMF). Further research is needed to confirm its role.
Area of Science:
- Genetics
- Molecular Biology
- Immunology
Background:
- Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder characterized by recurrent serositis.
- Over 18 MEFV gene mutations are linked to FMF, with E148Q in exon 2 being one identified variant.
Purpose of the Study:
- To investigate the clinical significance of the E148Q variant in the MEFV gene concerning FMF.
- To determine if E148Q represents a disease-causing mutation or a benign polymorphism.
Main Methods:
- Screening FMF patients and their parents for MEFV gene mutations.
- Clinical examination of individuals found to be homozygous for the E148Q variant.
- Analyzing the frequency of the E148Q variant in FMF patients, their parents, and a matched control group (Jews of Moroccan extraction).
Main Results:
- Two parents of unrelated FMF patients were homozygous for E148Q but remained clinically disease-free.
- The E148Q variant was found in 6.4% of the control group and 7.8% of the patient group.
- Homozygous E148Q individuals and their healthy siblings did not exhibit FMF symptoms, challenging its role as a pathogenic mutation.
Conclusions:
- The E148Q variant in the MEFV gene appears to be a benign polymorphism rather than a mutation causing Familial Mediterranean Fever.
- These findings necessitate a re-evaluation of the pathogenicity of the E148Q variant in FMF diagnostics and research.