|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Six sequence alterations (M694V, V726A, K695R, M680I, M694I, and E148Q), in the MEFV gene, account for the majority of FMF chromosomes.
|
11977178 |
2002 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Five founder mutations, V726A, M694V, M694I, M680I and E148Q account for 74% of FMF chromosomes from typical cases (Armenians, Arabs, Jews, and Turks).
|
11464238 |
2001 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Among the parents group (obligatory carriers), in addition to the 2 parents that were homozygous E148Q, in 2 families one of the parents was heterozygote for E148Q but transmitted the other allele (apparently with unknown FMF mutation) to the affected child.
|
10737995 |
2000 |
|
rs3743930
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Nevertheless, E148Q helps account for recessive inheritance in an Ashkenazi family previously reported as an unusual case of dominantly inherited FMF.
|
10090880 |
1999 |
|
rs104895094
|
|
|
0.810 |
GeneticVariation |
BEFREE |
When IBD accompanied FMF, the most common mutation was M694 V; however, the high rate (25%) of K695R mutation in our patients with FMF and IBD was not observed in previous studies.
|
23164758 |
2013 |
|
rs104895081
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Besides four synonymous polymorphisms in exon two and five, we found a T267I mutation in one heterozygous patient with a severe case of FMF who should have been designated as compound heterozygous, yet the other genotypes were all accurate.
|
20485448 |
2010 |
|
rs61732874
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Mutations p.M680I, p.M694V, p.M694I, p.K695R, p.V726A, and p.A744S, which are located in the B30.2 domain of pyrin protein, are responsible for manifestation of the most common and severe forms of FMF.
|
29575132 |
2018 |
|
rs61732874
|
|
|
0.820 |
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 |
|
rs11466024
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Patients with a sure FMF 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 |
|
rs11466024
|
|
|
0.840 |
GeneticVariation |
BEFREE |
P369S/R408Q substitutions are associated with a highly variable phenotype, and are infrequently associated with typical FMF symptoms, however a trial of colchicine is warranted in all.
|
19934105 |
2010 |
|
rs11466024
|
|
|
0.840 |
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 |
|
rs11466024
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Eight mutations, one of which (R408Q) is new, were found to account for 93% of the 163 independent FMF alleles, with both FMF alleles identified in 89% of the patients.
|
10364520 |
1999 |
|
rs104895097
|
|
|
0.850 |
GeneticVariation |
BEFREE |
FMF-associated p.Arg761His allele carried with the loss of function TNFAIP3 mutation by all three HA20 patients may contribute to their autoinflammatory phenotype and could also be responsible for their favourable response to colchicine.
|
31376265 |
2020 |
|
rs104895097
|
|
|
0.850 |
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 |
|
rs104895097
|
|
|
0.850 |
GeneticVariation |
BEFREE |
The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients.
|
24071932 |
2014 |
|
rs104895097
|
|
|
0.850 |
GeneticVariation |
BEFREE |
The p.R761H mutation is rather prevalent in Azeri Turks; therefore, it should be included in the routine molecular diagnosis of FMF patients from this ethnic group.
|
19863562 |
2009 |
|
rs104895097
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Consequently, we determined that R761H (n = 23; 3.48%) was the most frequent rare mutations in Turkish FMF patients.
|
18000697 |
2008 |
|
rs11466023
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Familial Mediterranean fever with P369S/R408Q exon3 variant in pyrin presenting as symptoms of PFAPA.
|
28001092 |
2017 |
|
rs11466023
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Patients with a sure FMF 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 |
|
rs11466023
|
|
|
0.860 |
GeneticVariation |
BEFREE |
The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients.
|
24071932 |
2014 |
|
rs11466023
|
|
|
0.860 |
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 |
|
rs11466023
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Consequently, we determined that P369S (n = 10; 8%) was the most frequent rare mutation in Turkish FMF patients.
|
19934083 |
2010 |
|
rs11466023
|
|
|
0.860 |
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 |
|
rs28940580
|
|
|
0.890 |
GeneticVariation |
BEFREE |
FMF is caused by mutations in the MEFV gene which is located on chromosome 16p13.3. p.M680I, p.M694 V, p.M694I, p.V726A on exon 10 and p.E148Q on exon 2 are the most common mutations among FMF patients and these constitute 85 % of all.
|
24533546 |
2015 |
|
rs28940580
|
|
|
0.890 |
GeneticVariation |
BEFREE |
The frequencies of independent alleles, with decreasing order, were E148Q (30.7 %), M694V (26.0 %), R761H (13.5 %), V726A (13.0 %), P369S (10.5 %) and M680I (6.3 %) in FMF patients.
|
24071932 |
2014 |