|
Fabry Disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
This is the first report that shows a link between FD renal Gb3 deposits and c.352C>T/p.Arg118Cys variant, supporting pathogenicity of a variant considered until now with uncertain pathogenicity.
|
31566927 |
2019 |
|
Fabry Disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
A single patient had a possible pathogenic variant, R118C, in the GLA gene, but clinical investigation showed no firm signs of FD.
|
30246259 |
2019 |
|
Fabry Disease
|
|
0.760 |
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 |
|
Fabry Disease
|
|
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 |
|
Fabry Disease
|
|
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 |
|
Fabry Disease
|
|
0.760 |
GeneticVariation
|
CLINVAR |
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 |
|
Fabry Disease
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C.
|
24661928 |
2014 |
|
Fabry Disease
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Prevalence of Fabry's disease within hemodialysis patients in Spain.
|
24365053 |
2014 |
|
Fabry Disease
|
|
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 |
|
Fabry Disease
|
|
0.760 |
GeneticVariation
|
CLINVAR |
New mutations in the GLA gene in Brazilian families with Fabry disease.
|
22551898 |
2012 |
|
Fabry Disease
|
|
0.760 |
GeneticVariation
|
CLINVAR |
The α-galactosidase A activity was deficient in plasma and normal in peripheral leukocytes; the GLA gene showed a nucleotide substitution c.352C>T (p.Arg 118 Cys) in the eson 2 with a residual enzyme activity of the 29% suggesting the diagnosis of Fabry disease.
|
21946453 |
2011 |
|
Fabry Disease
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
|
20122163 |
2010 |
|
Fabry Disease
|
|
0.760 |
GeneticVariation
|
CLINVAR |
Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients.
|
20110537 |
2010 |
|
Fabry Disease
|
|
0.760 |
GeneticVariation
|
CLINVAR |
High incidence of later-onset fabry disease revealed by newborn screening.
|
16773563 |
2006 |
|
Fabry Disease
|
|
0.760 |
GeneticVariation
|
CLINVAR |
A comparison of brain glucose metabolism in diabetes as measured by positron emission tomography or by arteriovenous techniques.
|
2393552 |
1990 |