|
rs1274043842
|
|
|
0.010 |
GeneticVariation |
BEFREE |
PAAND p.E244K patient serum displayed a different cytokine profile compared with patients with Familial Mediterranean Fever (FMF).
|
28835462 |
2017 |
|
rs190405488
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we identified a novel missense mutation (R361T, c.1082G>C) in exon 3 of the MEFV gene in a 12-year-old boy, who had a typical FMF phenotype.
|
25703702 |
2015 |
|
rs104895193
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Other mutations at the same amino acid (c.1730C>G; p.T577S and c.1729A>T; p.T577S) were found in a family of Turkish descent, with autosomal dominant inheritance of familial Mediterranean fever (FMF)-like phenotype, and a Dutch patient, respectively.
|
23505238 |
2014 |
|
rs75977701
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Enhanced exon 2 skipping caused by c.910G>A variant and alternative splicing of MEFV genes in two independent cases of familial Mediterranean fever.
|
21562927 |
2012 |
|
rs104895105
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV-associated periodic inflammatory disorder?
|
14679589 |
2004 |
|
rs767006697
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was no statistically significant difference between healthy controls and FMF patients for the Ala138Gly polymorphism (p=0.9).
|
11139244 |
2001 |
|
rs224222
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The most common mutations in children with FMF in Turkey were M694V and R202Q.
|
30284126 |
2019 |
|
rs224222
|
|
|
0.080 |
GeneticVariation |
BEFREE |
R202Q/M694V as novel MEFV gene mutations in chronic periodontitis and familial Mediterranean fever.
|
28590056 |
2017 |
|
rs224222
|
|
|
0.080 |
GeneticVariation |
BEFREE |
R202Q may be important in patients with FMF-associated AA amyloidosis.
|
27225717 |
2016 |
|
rs224222
|
|
|
0.080 |
GeneticVariation |
BEFREE |
We would like to present a case of Kartagener syndrome accompanied by FMF with R202Q polymorphism.
|
24533546 |
2015 |
|
rs224222
|
|
|
0.080 |
GeneticVariation |
BEFREE |
R202Q alteration of the MEFV gene leads to symptoms consistent with FMF in some cases.
|
24718488 |
2014 |
|
rs224222
|
|
|
0.080 |
GeneticVariation |
BEFREE |
R202Q polymorphism should be included in routine molecular diagnosis of FMF patients.
|
22771921 |
2012 |
|
rs224222
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The mutational analysis of the patient revealed a compound heterozygous E148Q/R202Q mutation in exon 2 of MEFV gene, which is a causative gene for familial Mediterranean fever.
|
18824843 |
2008 |
|
rs224222
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The presence of R202Q homozygosity in 12 of the remaining 25 MEFV negative FMF patients might be considered as disease related in Greeks.
|
17489852 |
2007 |
|
rs104895076
|
|
|
0.710 |
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 |
|
rs11466018
|
|
|
0.730 |
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 |
|
rs11466018
|
|
|
0.730 |
GeneticVariation |
BEFREE |
A case of familial Mediterranean fever associated with compound heterozygosity for the pyrin variant L110P-E148Q/M680I in Japan.
|
19967574 |
2010 |
|
rs11466018
|
|
|
0.730 |
GeneticVariation |
BEFREE |
On the other hand, 2 relatives who had never experienced symptoms of FMF were homozygous for L110P-E148Q as well as compound heterozygous for E148Q/E148Q-R761H.
|
18328141 |
2008 |
|
rs3743930
|
|
|
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 |
|
rs3743930
|
|
|
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 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Clinical features and disease severity of Turkish FMF children carrying E148Q mutation.
|
30714637 |
2019 |
|
rs3743930
|
|
|
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 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Genetic analysis revealed homozygous mutation in the MEFV gene (L110P-E148Q/L110P-E148Q), confirming the FMF diagnosis.
|
25800639 |
2017 |
|
rs3743930
|
|
|
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 |
|
rs3743930
|
|
|
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 |