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Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the
Leila Shahbaznejad1,2, Sayed-Reza Raeeskarami3,4, Raheleh Assari3,4
1Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran.
Objectives:
Familial Mediterranean Fever (FMF) is one of the most prevalent periodic fever syndromes; MEFV, the responsible gene for the disease, is in the short arm of chromosome16. In the considerable count of the FMF patients, only one mutation is found in the MEFV and parents, who were the obligatory carriers for that mutation, were asymptomatic. The aim of this study was to evaluate these asymptomatic parents in regard to mutation in MEFV gene and similarity between parents and offspring patients.
Methods:
In this cross-sectional study, asymptomatic parents of FMF patients enrolled the study were referred to periodic fever clinic or pediatric rheumatology clinic of Tehran University of Medical Sciences. The patients should have at least one mutation in MEFV gene and none of them had any family history of autoinflammatory disease. Twelve mutations in MEFV gene were assessed in the parents by Vienna Lab FMF Strip Assay kit by MAS PCR/Reverse hybridization.
Results:
Forty-three patients and their parents participated in the study. Sixty-three percent (27) of patients were male. Onset of disease symptoms in 31 patients (72%) was before 4 years of old. Nine (21%) of the patients had homozygote, 16 (37%) compound heterozygote, and 17(40%) heterozygote for MEFV mutation; there was a case of complex alleles mutations (2%). M694V/M694V in 4 patients (9%) was the most homozygote genotype, and M694V/R761H in 4 (9%) and E148Q in 7 (16%) were the most compound heterozygote and heterozygote genotype, respectively. M694V, M680I, and E148Q were the most mutation in the parents. Overall, 41 patients had mutations similar to their parents' mutation, except 2 whose parents had no mutation, but a patient did.
Conclusion:
It seems that occurrence of new mutations in offspring is not prevalent among FMF patients and there are other reasons for different clinical presentation in similar mutation carriers. On the other hand, in ethnicities with high prevalence of FMF, new mutation in descendant may occur, infrequently.
Insights
Asymptomatic parents of Familial Mediterranean Fever (FMF) patients often carry MEFV gene mutations, similar to their children. New MEFV mutations in offspring are uncommon, suggesting other factors influence FMF presentation.
Area of Science:
- Genetics
- Rheumatology
- Pediatrics
Background:
- Familial Mediterranean Fever (FMF) is a common periodic fever syndrome.
- The MEFV gene on chromosome 16 is responsible for FMF.
- Many FMF patients have only one MEFV mutation, with asymptomatic parents being carriers.
Purpose of the Study:
- To investigate MEFV gene mutations in asymptomatic parents of FMF patients.
- To determine the similarity of MEFV mutations between FMF patients and their parents.
Main Methods:
- Cross-sectional study of asymptomatic parents of FMF patients.
- Analysis of 12 MEFV gene mutations using Vienna Lab FMF Strip Assay kit.
- MAS PCR/Reverse hybridization technique employed for mutation detection.
Main Results:
- 43 FMF patients and their parents participated.
- MEFV mutations were found in parents, with M694V, M680I, and E148Q being most common.
- 41 patients shared similar MEFV mutations with their parents; two patients had unexplained mutations.
Conclusions:
- New MEFV mutations in FMF offspring appear infrequent.
- Clinical variability in FMF may stem from factors other than new mutations.
- Infrequent new mutations in descendants might occur in ethnicities with high FMF prevalence.
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