|
rs104894846
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The white blood cell α-gal activity was very low, and genetic analysis revealed a GLA gene variant (M296I), which is known as a late-onset genetic mutation of FD.
|
31847900 |
2019 |
|
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 |
|
rs148158093
|
|
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs869312265
|
|
|
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.
|
30853972 |
2019 |
|
rs28935490
|
|
|
0.780 |
GeneticVariation |
BEFREE |
This suggests that p.D313Y causes a potentially treatable condition resembling an early stage of Fabry disease.
|
30830284 |
2019 |
|
rs886041315
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Computational and modeling approaches to understand the impact of the Fabry's disease causing mutation (D92Y) on the interaction with pharmacological chaperone 1-deoxygalactonojirimycin (DGJ).
|
30635085 |
2019 |
|
rs148158093
|
|
|
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 |
|
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 |
|
rs869312386
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene.
|
30130681 |
2018 |
|
rs28935197
|
|
|
0.860 |
GeneticVariation |
BEFREE |
This case report details a discordant phenotype in brothers with Fabry disease and p.N215S mutation.
|
30023289 |
2018 |
|
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 |
|
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 |
|
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 |
|
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 |
|
rs148158093
|
|
|
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 |
|
rs28935197
|
|
|
0.860 |
GeneticVariation |
BEFREE |
Taken together, cardiac variant N215S mutation is rather an attenuated form of classical FD.
|
29294190 |
2018 |
|
rs28935490
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Our findings indicate that the D313Y variant is not causative to nor enhancing Fabry disease phenotype.
|
29037082 |
2017 |
|
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 |
|
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 |
|
rs398123226
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation.
|
28798024 |
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 |