rs869312141
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Interestingly, the I91T and F113L mutations are associated with the atypical form of Fabry disease.
|
19287194 |
2009 |
rs797044613
|
|
|
0.810 |
GeneticVariation |
BEFREE |
A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease.
|
15492942 |
2004 |
rs104894852
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The genotype Y222X is associated with classic Fabry disease, with unexpectedly rapid deterioration of visual acuity, while T410A is associated with a milder Fabry disease, with ventricular hypertrophy and neuropathic pain.
|
12694230 |
2003 |
rs28935195
|
|
|
0.810 |
GeneticVariation |
BEFREE |
Taken together, the present results strongly suggest that the missense mutation, A156T, in the alpha-Gal A gene causes typical Fabry disease.
|
11316246 |
2001 |
rs28935493
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The diagnosis of FD was confirmed by demonstration of a decreased alpha-galactosidase A activity, and the patient was shown to be hemizygote for a missense mutation (R342Q) in the alpha-galactosidase A gene (GLA).
|
11531972 |
2001 |
rs869312214
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.
|
10090526 |
1999 |
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 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 |
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 |
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 |
This is the confusable case of HOCM with Fabry disease with the GLA E66Q mutation.
|
27160240 |
2016 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs28935490
|
|
|
0.780 |
GeneticVariation |
BEFREE |
This suggests that p.D313Y causes a potentially treatable condition resembling an early stage of Fabry disease.
|
30830284 |
2019 |
rs28935490
|
|
|
0.780 |
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 |
rs28935490
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Eight D313Y carriers were presenting signs of FD despite not fulfilling the criteria of the disease, two had no FD signs and two others were apparently healthy.
|
28988177 |
2017 |
rs28935490
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Our findings indicate that the D313Y variant is not causative to nor enhancing Fabry disease phenotype.
|
29037082 |
2017 |
rs28935490
|
|
|
0.780 |
GeneticVariation |
BEFREE |
The mutation p.D313Y is associated with organ manifestation in Fabry disease.
|
28276057 |
2017 |