|
rs104894828
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Hemizygous mutations associated with Fabry disease were detected in two male patients (2.50% of the screened population): NM_000169.2:c.334C>T(p.Arg112Cys), NM_000169.2:c.902G>A(p.Arg301Gln).
|
31446751 |
2019 |
|
rs104894828
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case.
|
1315715 |
1992 |
|
rs104894828
|
|
|
0.840 |
GeneticVariation |
BEFREE |
DGJ was capable of normalizing intracellular processing of mutant alpha-Gal A found in both classic (L166V) and variant (R301Q) Fabry disease patients.
|
17555407 |
2007 |
|
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 |
|
rs104894831
|
|
|
0.810 |
GeneticVariation |
BEFREE |
A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
|
2152885 |
1990 |
|
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 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns.
|
20505683 |
2010 |
|
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 |
|
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 |
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 |
Five male patients and two female patients had GLA c.196G>C (p.E66Q) variant, which is not associated with the full clinical manifestations of Fabry disease.
|
28275245 |
2017 |
|
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 |
|
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 |
In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other.
|
1315715 |
1992 |
|
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 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The genetic analysis did not identify a causative mutation responsible for classic Fabry disease in any of the patients, but 2 patients (.4%) carried the p.E66Q in GLA.
|
30201457 |
2018 |
|
rs104894833
|
|
|
0.800 |
GeneticVariation |
BEFREE |
This is the confusable case of HOCM with Fabry disease with the GLA E66Q mutation.
|
27160240 |
2016 |
|
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 |
|
rs104894834
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Hemizygous mutations associated with Fabry disease were detected in two male patients (2.50% of the screened population): NM_000169.2:c.334C>T(p.Arg112Cys), NM_000169.2:c.902G>A(p.Arg301Gln).
|
31446751 |
2019 |
|
rs104894834
|
|
|
0.830 |
GeneticVariation |
BEFREE |
In contrast, two unrelated cases with classic Fabry disease were found to have different point mutations, which showed a complete loss of enzyme activity in a transient expression assay; 328Gly----Arg (982G----A) in the downstream region of exon 6 in one case and two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cys (334C----T), in exon 2 in the other.
|
1315715 |
1992 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Recently, the pathogenic role of the p.Ala143Thr mutation in causing Fabry's disease has been questioned.
|
24380807 |
2014 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
BEFREE |
The p.A143T variant is a genetic variant of unknown significance, with its associated phenotype ranging from classical FD to healthy unaffected patients.
|
29867742 |
2018 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Clinical evaluation suggested the diagnosis of Fabry disease, which was confirmed by reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively) due to a missense A143T mutation.
|
16533976 |
2006 |
|
rs104894845
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Additionally, we detected 8 subjects carrying genetic variants possibly linked to late onset Fabry disease (p.Arg118Cys and p.Ala143Thr), 4 cases with polymorphism p.Asp313Tyr and 36 individuals with single nucleotide polymorphisms in intronic regions of GLA.
|
29631605 |
2018 |