|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
• In a local cluster of FMF families (Altamura, Puglia, Southern Italy), we report a very late-onset FMF (variants E148Q, R761H) in an 86-year-old patient with a positive family history of FMF in two generations of descendants.
|
31401792 |
2020 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
Clinical features and disease severity of Turkish FMF children carrying E148Q mutation.
|
30714637 |
2019 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
A genetic study revealed a heterozygous mutation of the MEFV gene, c.442G>C (E148Q), which is typical of familial Mediterranean fever.
|
30847869 |
2019 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
Patients homozygous for E148Q and negative for other pathogenic MEFV variants may display FMF phenotype and may experience moderate/severe disease activity, although the disease may be milder when compared to FMF patients with other mutations.
|
27457448 |
2018 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
Molecular genetic analysis using whole-exome sequencing suggested the presence of variants c.443A>T:p.E148V and c.442G>C:p.E148Q in the MEFV gene, earlier independently shown to be associated with familial Mediterranean fever (FMF) in a compound heterozygous state.
|
28211254 |
2017 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
Genetic analysis revealed homozygous mutation in the MEFV gene (L110P-E148Q/L110P-E148Q), confirming the FMF diagnosis.
|
25800639 |
2017 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
Allele frequencies of M694I (13.5 % vs 0 %) and E148Q (39.1 % vs 24.8 %) mutations were significantly higher in FMF compared with healthy subjects.
|
27473114 |
2016 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
An initial diagnosis of FMF was suspected based on the genetic analysis, showing the compound heterozygous L110P/E148Q mutations in the MEFV gene that is responsible for FMF.
|
24835548 |
2014 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
FMF patients heterozygous for E148Q mutation, heterozygous for M694I mutation, or combined heterozygous for E148Q and M694I mutations, which were found to be major mutations in an FMF study group in Japan, suffer from arthritis, the severity of which is likely to be lower than in FMF patients with M694V mutations.
|
24318677 |
2014 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
Three Japanese patients (mother and two children) with familial Mediterranean fever associated with compound heterozygosity for L110P/E148Q/M694I and an autosomal true dominant inheritance pattern.
|
24383976 |
2013 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
We screened 207 BD patients who had no symptoms and family history for FMF and 200 healthy subjects for five common MEFV gene mutations (E148Q, M680I, M694V, V726A, P369S) and clinical features.
|
23973724 |
2013 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
Despite evidence that environmental factors (EFs) and genetic factors, including MEFV mutations (such as M694V, E148Q) and background modifier genes (MGs), affect the clinical manifestations of FMF, the relative contribution of each remains unknown.
|
22019429 |
2012 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
Familial Mediterranean fever-associated mutation pyrin E148Q as a potential risk factor for multiple sclerosis.
|
22337722 |
2012 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
This is the first reported case of PLE with a distended right jugular vein due to CP secondary to familial Mediterranean fever associated with E148Q heterozygosity in the MEFV gene.
|
21210266 |
2011 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
The role of the E148Q pyrin mutation in the FMF phenotype remains inconclusive, and some authors even view it as a disease-insignificant polymorphism.
|
21598804 |
2011 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.
|
19967574 |
2010 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
We investigated 316 patients with a clinical diagnosis of FMF for 12 MEFV mutations including the 5 most common known mutations M694V, V726A, M694I, M680I, and E148Q by allele-specific hybridization.
|
20151816 |
2010 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
Our data indicate that the FMF carrier rate and E148Q mutation frequency are high in the Iranian Azeri Turkish population.
|
19929404 |
2010 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
We identified 1 homozygous (E148Q/E148Q), 1 compound heterozygous (M694V/E148Q) and 5 heterozygous MEFV gene mutations; none had their own and/or family history compatible with familial Mediterranean fever.
|
20437121 |
2010 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
We investigated a possible association between Kawasaki disease (KD), a systemic vasculitis of unknown etiology, or its coronary artery lesions (CAL) and MEFV gene variants including E148Q, the most common and mild mutation in the MEFV gene for familial Mediterranean fever or vasculitis-related disorders.
|
19026701 |
2009 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
He was later found to carry E148Q polymorphism of MEFV, the gene responsible for familial Mediterranean fever.
|
18625654 |
2008 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
Haplotype analysis of 376 Familial Mediterranean Fever (FMF) patients and 100 controls from Lebanon was performed using 4 microsatellite loci to study founder effects for the five most frequent mutations within the MEFV gene (M694V, M694I, V726A, M680I and E148Q).
|
17711558 |
2008 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
Two of the patients (siblings with definite FMF) were heterozygous for both E148Q and M694I, and the remaining patient (with probable FMF and no family history of the disease) was heterozygous for both P369S and R408Q.
|
18097735 |
2008 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
Analysis for FMF mutations in the control group revealed that 5 (5%) individuals bore MEFV gene mutations (3 were heterozygous for the E148Q and 2 were heterozygous for the A744S).
|
16273767 |
2006 |
|
Familial Mediterranean Fever
|
|
0.800 |
GeneticVariation
|
BEFREE |
Considering p.E148Q to be a benign polymorphism should reduce the possibility of false-positive diagnoses, while highlighting genetic heterogeneity in FMF.
|
16439437 |
2006 |