Familial Mediterranean fever in a large Lebanese family: Multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation

2011 ◽  
Vol 54 (1) ◽  
pp. 50-54 ◽  
Author(s):  
Myrna Medlej-Hashim ◽  
Eliane Chouery ◽  
Nabiha Salem ◽  
Valérie Delague ◽  
Gérard Lefranc ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Founder Effect ◽  
Mefv Mutations ◽  
Mediterranean Fever

Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis

2012 ◽  
Vol 18 (9) ◽  
pp. 1229-1238 ◽  
Author(s):  
T Kümpfel ◽  
L-A Gerdes ◽  
T Wacker ◽  
A Blaschek ◽  
J Havla ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Risk Factor ◽  
Familial Mediterranean Fever ◽  
Mefv Gene ◽  
German Population ◽  
Gene Group ◽  
Mefv Mutations ◽  
Mediterranean Fever ◽  
Group 2 ◽  
Group 1

Background: Familial Mediterranean fever (FMF) is an inherited autoinflammatory disease caused by mutations in the MEFV gene and characterized by recurrent febrile polyserositis. A possible association of FMF and multiple sclerosis (MS) has been suggested in cohorts from Turkey and Israel. Objective: The objective of this study was to investigate the prevalence of MEFV mutations in subjects with MS and in controls in Germany. Methods: One-hundred and fifty seven MS patients with at least one symptom or without symptoms suggestive of FMF from our outpatient clinic were investigated for mutations in exons 2, 3, and 10 of the MEFV gene (group 1). 260 independent MS patients (group 2) and 400 unrelated Caucasian controls (group 3) were screened selectively for the low-penetrance pyrin mutations E148Q and K695R Results: In group 1, 19 MS patients (12.1%) tested positive for a mutation in the MEFV gene, mainly the E148Q ( n=7) substitution. Fifteen of the 19 mutation-positive individuals reported at least one symptom suggestive of FMF. In three cases, we could identify additional family members with MS. In these pedigrees, the E148Q exchange co-segregated with MS ( p=0.026). Frequencies of the pyrin E148Q and K695R mutations were not statistically different between MS group 2 and controls but they occurred with a surprisingly high frequency in the German population. Conclusion: The MEFV gene appears to be another immunologically relevant gene locus which contributes to MS susceptibility. In particular, the pyrin E148Q mutation, which co-segregated with disease in three MS families, is a promising candidate risk factor for MS that should be further explored in larger studies.

scholarly journals Multiplex Molecular Diagnosis of MEFV Mutations in Patients with Familial Mediterranean Fever by LightCycler Real-Time PCR

2005 ◽  
Vol 51 (9) ◽  
pp. 1725-1727 ◽  
Author(s):  
Elena Rossou ◽  
Anastasia Kouvatsi ◽  
Charalampos Aslanidis ◽  
Constantinos Deltas
Keyword(s):  
Familial Mediterranean Fever ◽  
Real Time ◽  
Molecular Diagnosis ◽  
Real Time Pcr ◽  
Mefv Mutations ◽  
Mediterranean Fever

Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever

2006 ◽  
Vol 329 (2) ◽  
pp. 71-74 ◽  
Author(s):  
Latifa Belmahi ◽  
Abdelaziz Sefiani ◽  
Corinne Fouveau ◽  
Josué Feingold ◽  
Marc Delpech ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Mefv Mutations ◽  
Mediterranean Fever

scholarly journals First Report of Predominant MEFV Mutations in a Persian Children Population with Familial Mediterranean Fever: R202Q, M694V/I

2018 ◽  
Vol 07 (01) ◽  
Author(s):  
Shirin Sayyahfar ◽  
Reza Shiari ◽  
Fahimeh Shahmiri ◽  
Farzaneh Vali ◽  
Babak Behnam
Keyword(s):  
Familial Mediterranean Fever ◽  
First Report ◽  
Mefv Mutations ◽  
Mediterranean Fever

Unresponsiveness to Colchicine Therapy in Patients with Familial Mediterranean Fever Homozygous for the M694V Mutation

2009 ◽  
Vol 37 (1) ◽  
pp. 182-189 ◽  
Author(s):  
OGUZ SOYLEMEZOGLU ◽  
MUSTAFA ARGA ◽  
KIBRIYA FIDAN ◽  
SEVIM GONEN ◽  
HAMDI CIHAN EMEKSIZ ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Colchicine Treatment ◽  
Response To Treatment ◽  
Therapeutic Implications ◽  
Mefv Mutations ◽  
Increased Risk ◽  
M694v Mutation ◽  
Group A ◽  
Mediterranean Fever ◽  
Group B

Objective.More than 50 disease-associated mutations of the Mediterranean fever gene (MEFV) have been identified in familial Mediterranean fever (FMF), some of which were shown to have different clinical, diagnostic, prognostic, and therapeutic implications. The aim of our study was to define the frequency of mutation type, genotype-phenotype correlation, and response to colchicine treatment in patients with FMF.Methods.This study included 222 pediatric FMF patients. All patients were investigated for 6 MEFV mutations. Then patients were divided into 3 groups according to the presence of M694V mutation on both of the alleles (homozygotes), on only 1 allele (heterozygotes), and on none of the alleles, and compared according to their phenotypic characteristics and response to treatment. M694V/M694V was denoted Group A, M694V/Other Group B, and Other/Other, Group C.Results.Complete colchicine response was significantly lower while the rate of unresponsiveness was significantly higher in Group A compared to Groups B and C (p = 0.031, p < 0.001 and p = 0.005, p = 0.029, respectively). No differences except proteinuria were found between the phenotypic features of 3 groups. Group C had the lowest rate of proteinuria development (p = 0.024). All the amyloidosis patients were in Group A.Conclusion.Our results indicate that the M694V/M694V mutation is associated with lower response to colchicine treatment. Therefore, patients homozygous for M694V/M694V may be carrying an increased risk for development of amyloidosis.

The spectrum of Familial Mediterranean Fever gene ( MEFV ) mutations and genotypes in Iran, and report of a novel missense variant (R204H)

2017 ◽  
Vol 60 (12) ◽  
pp. 701-705 ◽  
Author(s):  
Nader Ebadi ◽  
Abbas Shakoori ◽  
Masoumeh Razipour ◽  
Arash Salmaninejad ◽  
Razieh Zarifian Yeganeh ◽  
...  
Keyword(s):  
Familial Mediterranean Fever ◽  
Missense Variant ◽  
Mefv Mutations ◽  
Mediterranean Fever

MEFV mutations in patients with familial Mediterranean fever from the Aegean region of Turkey

2009 ◽  
Vol 37 (1) ◽  
pp. 93-98 ◽  
Author(s):  
Haluk Akin ◽  
Huseyin Onay ◽  
Emre Turker ◽  
Ozgur Cogulu ◽  
Ferda Ozkinay
Keyword(s):  
Familial Mediterranean Fever ◽  
Aegean Region ◽  
Mefv Mutations ◽  
Mediterranean Fever

scholarly journals Idiopathic Uveitis and Familial Mediterranean Fever: Is There Any Relationship?

2014 ◽  
Vol 2014 ◽  
pp. 1-3 ◽  
Author(s):  
Farhad Salehzadeh ◽  
Ozra Yasrebi ◽  
Mahsa Hosseini Khotbesara ◽  
Maryam Hosseini Khotbesara
Keyword(s):  
Familial Mediterranean Fever ◽  
Inflammatory Process ◽  
Mefv Gene ◽  
Gene Mutations ◽  
The Other ◽  
Blurred Vision ◽  
Mefv Mutations ◽  
Auto Inflammatory Disease ◽  
Mediterranean Fever ◽  
Positive Results

Introduction. Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by attacks of fever and polyserositis. FMF is often associated with other autoimmune diseases such as rheumatoid arthritis, polyarteritis nodosa (PAN), and Behcet. Uveitis is an inflammatory process caused by underlying infectious and inflammatory disorders. This study investigates the probable relationship between idiopathic uveitis and FMF.Methods. Patients with idiopathic uveitis were analyzed for the 12 most common MEFV mutations (P369S, F479L, M680I(G/C), M680I(G/A), I692del, M694V, M694I, K695R, V726A, A744S, R761H, E148Q) by a reverse hybridization assay (FMF StripAssay,Vienna lab,Vienna, Austria).Results. 12 patients with idiopathic uveitis were enrolled in this study. 10 of them were female. The youngest patient was a 7-year-old child and the oldest was 57. The most common complaints of patients were blurred vision and then eye redness. One patient was heterozygous for R761H. Genetic analysis of the 12 most common MEFV mutations in the patients with idiopathic uveitis didnot have any positive results.Conclusion. According to the analysis of the 12 most common MEFV gene mutations, FMF is not an underlying cause of idiopathic uveitis. On the other hand, uveitis merely could not be the first presentation of FMF.

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