|
rs28940578
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Although the M694I mutation is less common among Mediterranean populations, it was present in 22 (76%) of 29 Japanese patients with FMF (previously reported cases).
|
18097735 |
2008 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
This study shows that p.M694I homozygosity is a potential genetic risk factor for the development of renal AA-amyloidosis in Algerian FMF patients.
|
27956278 |
2017 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Recently, the gene responsible for FMF, MEFV, has been cloned and four missense mutations (M680I, M694V, V726A and M694I) have been described.
|
10709887 |
2000 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Genomic analysis showed the patient to be heterozygous for the E148Q/M694I mutation in the MEFV gene, and we diagnosed familial Mediterranean fever.
|
22766764 |
2013 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
|
0.900 |
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 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Typical FMF phenotype frequencies were decreased in patients carrying 2 or a single low-penetrance mutations compared with those carrying 2 or a single high-penetrance mutations (M694I), with an opposite trend for the atypical FMF phenotype.
|
24797171 |
2014 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever.
|
15168590 |
2004 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
|
0.900 |
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 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Patients with a sure FMF</span> phenotype had a higher frequency of MEFV exon 10 mutation (M694I) and a lower frequency of MEFV exon 3 mutations (P369S, R408Q) compared with those with a probable FMF phenotype.
|
27473114 |
2016 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Familial Mediterranean fever in a large Lebanese family: multiple MEFV mutations and evidence for a Founder effect of the p.[M694I] mutation.
|
20937419 |
2011 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
|
0.900 |
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 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
None of the Sicilian subjects studied carried the V726A and the M694I FMF-related mutations.
|
16387839 |
2006 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Common MEFV mutation patterns were E148Q/M694I (25.0%), M694I alone (17.5%), and L110P/E148Q/M694I (17.5%), and no patient carried the M694V mutation, the most common mutation in Mediterranean patients with FMF.
|
19531756 |
2009 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
|
0.900 |
GeneticVariation
|
BEFREE |
Amyloid A amyloidosis in a Japanese patient with familial Mediterranean fever associated with homozygosity for the pyrin variant M694I/M694I.
|
24593212 |
2014 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
MEFV mutations in Turkish patients suffering from Familial Mediterranean Fever.
|
10612841 |
2000 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
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 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Homozygous M694V as a risk factor for amyloidosis in Turkish FMF patients.
|
22037353 |
2012 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
A candidate gene for familial Mediterranean fever.
|
9288094 |
1997 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Mutational analysis of the PRYSPRY domain of pyrin and implications for familial mediterranean fever (FMF).
|
16730661 |
2006 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.
|
10364520 |
1999 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
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 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Here, we report a Japanese female FMF patient with heterozygosity for the compound pyrin E148Q/M694I showing recurrent fever, serositis or delay in skin wound healing.
|
15805719 |
2005 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis.
|
10234504 |
1999 |
|
rs28940578
|
|
Familial Mediterranean Fever
|
T |
0.900 |
CausalMutation
|
CLINVAR |
E148Q/M694I mutation in 3 Japanese patients with familial Mediterranean fever.
|
15168590 |
2004 |