rs104894848
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Fabry Disease
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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.
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9554750 |
1998 |
rs104894848
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Fabry Disease
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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.
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10845698 |
2000 |
rs797044613
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Fabry Disease
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0.810 |
GeneticVariation
|
BEFREE |
A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease.
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15492942 |
2004 |
rs104894831
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Fabry Disease
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0.810 |
GeneticVariation
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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.
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2152885 |
1990 |
rs869312304
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Fabry Disease
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0.010 |
GeneticVariation
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BEFREE |
One man had a novel mutation, GLA p.Ala5Glu (c.44C>A), presenting as classical FD.
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22805550 |
2013 |
rs869312265
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Fabry Disease
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|
0.010 |
GeneticVariation
|
BEFREE |
Our study reveals the pathogenesis of splicing mutation c.801 + 1G > A to FD and provides scientific foundation for accurate diagnosis and precise medical intervention for FD.
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30853972 |
2019 |
rs869312255
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Fabry Disease
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0.010 |
GeneticVariation
|
BEFREE |
It is noticeable that for two female patients with the M51I mutation the initial clinical diagnosis was different from FD.
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25977923 |
2015 |
rs730880455
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Fabry Disease
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|
0.010 |
GeneticVariation
|
BEFREE |
Genetic analysis of two hemizygous male patients revealed a missense mutation predicting a leucine to proline substitution (L14P) in the alpha-galactosidase gene causing classical Fabry's disease in this family.
|
12480979 |
2003 |
rs28935197
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Fabry Disease
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|
0.860 |
GeneticVariation
|
BEFREE |
This case report details a discordant phenotype in brothers with Fabry disease and p.N215S mutation.
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30023289 |
2018 |
rs28935197
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Fabry Disease
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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.
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29649853 |
2018 |
rs28935197
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Fabry Disease
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|
0.860 |
GeneticVariation
|
BEFREE |
Taken together, cardiac variant N215S mutation is rather an attenuated form of classical FD.
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29294190 |
2018 |
rs28935197
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Fabry Disease
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|
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
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Fabry Disease
|
|
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.
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18849176 |
2008 |
rs28935197
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Fabry Disease
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|
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
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Fabry Disease
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|
0.860 |
GeneticVariation
|
BEFREE |
Recently, the pathogenic role of the p.Ala143Thr mutation in causing Fabry's disease has been questioned.
|
24380807 |
2014 |
rs104894845
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Fabry Disease
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|
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
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|
Fabry Disease
|
|
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
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Fabry Disease
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|
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 |
rs104894845
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Fabry Disease
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|
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
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Fabry Disease
|
|
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 |
rs104894828
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Fabry Disease
|
|
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
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Fabry Disease
|
|
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
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Fabry Disease
|
|
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
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Fabry Disease
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|
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 |
rs869312142
|
|
Fabry Disease
|
|
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 |