|
rs886044845
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A typical mutation for FD (c.424T>C, [C142R]) was detected in one patient.
|
20860754 |
2011 |
|
rs104894828
|
|
|
0.840 |
GeneticVariation |
BEFREE |
A transgenic mouse expressing the human α-Gal A R301Q mutant in an α-Gal A-knockout background (TgM/KO) should be useful for studying active-site-specific chaperone (ASSC) therapy for Fabry disease.
|
20961863 |
2011 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
An electron microscopic examination did not reveal any pathological changes specific to Fabry disease in biopsied skin tissues from a male subject with the E66Q enzyme.
|
22305854 |
2012 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These two patients with the E66Q mutation were excluded because of the possibility of polymorphism; the prevalence of Fabry disease in the HD population was finally calculated to be 0.11%.
|
22563919 |
2012 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
On the other hand, unexpectedly high frequencies of male subjects having the c.196G>C nucleotide change (p.E66Q) showing low α-GLA activity have been reported on Japanese and Korean screening for Fabry disease.
|
22695894 |
2012 |
|
rs869312304
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One man had a novel mutation, GLA p.Ala5Glu (c.44C>A), presenting as classical FD.
|
22805550 |
2013 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The frequency of Fabry disease with the E66Q variant in the α-galactosidase A gene in Japanese dialysis patients: a case report and a literature review.
|
22874111 |
2012 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
All IS patients with p.E66Q mutation had substantial residual α-Gal A activity, in contrast to patients with classic-type Fabry disease.
|
23724928 |
2014 |
|
rs104894834
|
|
|
0.830 |
GeneticVariation |
BEFREE |
These findings suggest that the missense mutation, p.R112C, in α-gal A gene ablates its activity and results in the development of FD with the renal damage.
|
23867994 |
2013 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In terms of genetic abnormalities, the E66Q mutation has recently become a topic of discussion, and although doubts have been expressed over whether or not it is the gene responsible for Fabry disease, there is still a strong possibility that it is a functional genetic polymorphism.
|
24189976 |
2014 |
|
rs869312407
|
|
|
0.710 |
GeneticVariation |
BEFREE |
To evaluate the procedure, genomic DNAs were blindly tested for known GLA mutations (c.658C>T, c. 679C>T, c.772G>A, c.796G>A, or c.718-719delAA) in three affected males and two obligate heterozygotes with Fabry disease, a G6PC mutation (c.247C>T) in a patient homozygous for that lesion, and 10 healthy control Turkish individuals.
|
24341606 |
2014 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Recently, the pathogenic role of the p.Ala143Thr mutation in causing Fabry's disease has been questioned.
|
24380807 |
2014 |
|
rs148158093
|
|
|
0.760 |
GeneticVariation |
BEFREE |
This case also supports the idea that the missense mutation R118C is indeed a true pathogenic mutation of Anderson-Fabry disease.
|
24661928 |
2014 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The p.E66Q variant of the α-galactosidase A gene (GLA) is frequently found during screening for Fabry disease in dialysis patients in Japan.
|
24718812 |
2015 |
|
rs148158093
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Overall, those data strongly suggest that the GLA p.(Arg118Cys) variant does not segregate with FD clinical phenotypes in a Mendelian fashion, but might be a modulator of the multifactorial risk of cerebrovascular disease.
|
25468652 |
2015 |
|
rs869312255
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It is noticeable that for two female patients with the M51I mutation the initial clinical diagnosis was different from FD.
|
25977923 |
2015 |
|
rs869312400
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5).
|
26269958 |
2015 |
|
rs869312402
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5).
|
26269958 |
2015 |
|
rs148158093
|
|
|
0.760 |
GeneticVariation |
BEFREE |
No classic pathogenic FD mutations were found; one patient had a missense mutation (R118C), associated with late-onset FD.
|
26305465 |
2015 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our results directly implicated the GLA mutation p.E66Q as the genetic etiology of the Chinese renal variant FD pedigree.
|
26456105 |
2016 |
|
rs28935490
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Organ manifestations and long-term outcome of Fabry disease in patients with the GLA haplotype D313Y.
|
27059467 |
2016 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Additionally, p.A143T patients showed less severe FD-typical symptoms and absent FD-typical renal and cardiac involvement in comparison to FD patients with other missense mutations.
|
27142856 |
2016 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
This is the confusable case of HOCM with Fabry disease with the GLA E66Q mutation.
|
27160240 |
2016 |
|
rs868949479
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Only the patient with W204X mutation had classic FD.The prevalence rate was 0.12%.
|
27576502 |
2016 |
|
rs869312346
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Only the patient with W204X mutation had classic FD.The prevalence rate was 0.12%.
|
27576502 |
2016 |