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 |
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 |
rs28935197
|
|
|
0.860 |
GeneticVariation |
BEFREE |
This case report details a discordant phenotype in brothers with Fabry disease and p.N215S mutation.
|
30023289 |
2018 |
rs28935197
|
|
|
0.860 |
GeneticVariation |
BEFREE |
To expand on the scarce phenotype data, we analyzed natural history data from 125 p.N215S patients (66 females, 59 males) enrolled in the Fabry Registry (NCT00196742) and compared it with data from 401 patients (237 females, 164 males) harboring mutations associated with classic Fabry disease.
|
29649853 |
2018 |
rs28935197
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Taken together, cardiac variant N215S mutation is rather an attenuated form of classical FD.
|
29294190 |
2018 |
rs28935197
|
|
|
0.860 |
GeneticVariation |
BEFREE |
α-Galactosidase A genotype N215S does not lead to the development of a classical Fabry phenotype but induces a specific cardiac variant of Fabry disease mimicking nonobstructive hypertrophic cardiomyopathy.
|
29018006 |
2017 |
rs28935197
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Abnormalities in lipid rafts (LRs) were observed in fibroblasts isolated from a male patient with FD bearing the mutation N215S.
|
28351893 |
2017 |
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 |
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 Fabry disease-causing A143T mutation was seen in an African-American male with cryptogenic stroke (0.18% of all strokes: upper 95% CI=0.53%; 0.65% of cryptogenic strokes: upper 95% CI=1.92%).
|
20007919 |
2010 |
rs28935197
|
|
|
0.860 |
GeneticVariation |
BEFREE |
The c.644A>G mutation that has previously been found mostly in patients with the cardiac variant of FD, was associated with renal but not cardiac involvement in this female and in two other family members.
|
18849176 |
2008 |
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 |
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 |
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 |
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 |
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 |
rs869312142
|
|
|
0.830 |
GeneticVariation |
BEFREE |
A founder effect of FD due to p.F113L mutation was documented by genealogy and genetics in a Portuguese region.
|
31519519 |
2020 |
rs869312142
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The α-galactosidase gene (GLA) c.337T>C/p.Phe113Leu variant was originally described in patients with late-onset cardiac forms of Fabry disease (FD), who had residual α-galactosidase activity.
|
31200018 |
2020 |
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 |
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 |
rs869312142
|
|
|
0.830 |
GeneticVariation |
BEFREE |
Interestingly, the I91T and F113L mutations are associated with the atypical form of Fabry disease.
|
19287194 |
2009 |
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 |
rs104894848
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Role of Ser-65 in the activity of alpha-galactosidase A: characterization of a point mutation (S65T) detected in a patient with Fabry disease.
|
10845698 |
2000 |
rs104894848
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online.
|
9554750 |
1998 |
rs28935494
|
|
|
0.810 |
GeneticVariation |
BEFREE |
This case also provides the first clinical evidence that the p.G360R mutation is pathogenic and responsible for a classic phenotype of Fabry disease.
|
31634893 |
2020 |