|
rs776948121
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
BEFREE |
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
|
7981676 |
1994 |
|
rs757700700
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
BEFREE |
In this study, we present four mutations found in three Japanese patients with the juvenile form of glycogen storage disease type II; three of these mutations were new (R224W, S619R, and R660H).
|
14643388 |
2003 |
|
rs28940868
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
BEFREE |
The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.
|
8094613 |
1993 |
|
rs121907936
|
|
Glycogen storage disease type II
|
|
0.810 |
GeneticVariation
|
BEFREE |
Sequencing of the cDNA from a cell line (GM 244) derived from a patient with Pompe disease demonstrated a T953-to-C transition that predicted a methionine-to-threonine substitution at codon 318.
|
1652892 |
1991 |
|
rs765718882
|
|
Glycogen storage disease type II
|
|
0.720 |
GeneticVariation
|
BEFREE |
DNA analysis demonstrated novel mutation E888X of acid alpha-glucosidase gene with compound heterozygosity IVS1/E888X, confirming diagnosis of Pompe disease.
|
16531044 |
2006 |
|
rs765718882
|
|
Glycogen storage disease type II
|
|
0.720 |
GeneticVariation
|
BEFREE |
Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene.
|
31743840 |
2019 |
|
rs121907942
|
|
Glycogen storage disease type II
|
|
0.720 |
GeneticVariation
|
BEFREE |
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.
|
7881422 |
1994 |
|
rs121907942
|
|
Glycogen storage disease type II
|
|
0.720 |
GeneticVariation
|
BEFREE |
In a new transgenic mouse model of Pompe disease that expresses human P545L on a Gaa knockout background (Tg/KO) and is characterized by reduced GAA activity and elevated glycogen levels in disease-relevant tissues, daily oral administration of AT2220 for 4 weeks resulted in significant and dose-dependent increases in mature lysosomal GAA isoforms and GAA activity in heart and skeletal muscles.
|
25036864 |
2014 |
|
rs1800312
|
|
Glycogen storage disease type II
|
|
0.710 |
GeneticVariation
|
BEFREE |
The genotype/phenotype correlations indicated that c.2238G > C (p.W746C) is correlated with juvenile- onset GSDII and that c.872T > C (p.L291P) and c.1411_1414del (p.E471fsX5) are correlated with infantile-onset GSDII.
|
18458862 |
2008 |
|
rs1800307
|
|
Glycogen storage disease type II
|
|
0.030 |
GeneticVariation
|
BEFREE |
The high frequency (3.3-3.9%) of acid α-glucosidase pseudodeficiency, c.[1726G>A; 2065G>A] homozygote (AA homozygote), in Asian populations complicates newborn screening for Pompe disease (glycogen storage disease type II or acid maltase deficiency) on dried blood spots, since AA homozygotes have a considerably low enzyme activity.
|
21320792 |
2011 |
|
rs1800307
|
|
Glycogen storage disease type II
|
|
0.030 |
GeneticVariation
|
BEFREE |
Thus, it was difficult to distinguish newborns with c.[1726G>A; 2965G>A] alleles from newborns with pre-symptomatic Pompe disease using AαGlu assays in DBSs or fibroblasts; GAA gene sequencing was necessary.
|
31076647 |
2019 |
|
rs1800307
|
|
Glycogen storage disease type II
|
|
0.030 |
GeneticVariation
|
BEFREE |
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
|
18301443 |
2008 |
|
rs1800309
|
|
Glycogen storage disease type II
|
|
0.020 |
GeneticVariation
|
BEFREE |
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
|
18301443 |
2008 |
|
rs1800309
|
|
Glycogen storage disease type II
|
|
0.020 |
GeneticVariation
|
BEFREE |
The high frequency (3.3-3.9%) of acid α-glucosidase pseudodeficiency, c.[1726G>A; 2065G>A] homozygote (AA homozygote), in Asian populations complicates newborn screening for Pompe disease (glycogen storage disease type II or acid maltase deficiency) on dried blood spots, since AA homozygotes have a considerably low enzyme activity.
|
21320792 |
2011 |
|
rs749529161
|
|
Glycogen storage disease type II
|
|
0.010 |
GeneticVariation
|
BEFREE |
Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene.
|
31743840 |
2019 |
|
rs564758226
|
|
Glycogen storage disease type II
|
|
0.010 |
GeneticVariation
|
BEFREE |
The deleterious effect of c.510C>T was also found in muscle cells, the main target cells in Pompe disease.
|
30922962 |
2019 |
|
rs374569672
|
|
Glycogen storage disease type II
|
|
0.010 |
GeneticVariation
|
BEFREE |
Of the remaining five cases, three p.V222M homozygotes, a benign variant, were classified by CLIR as false positives; two with genotypes of unknown significance, one likely informative, were categorized as Pompe disease.
|
29095812 |
2018 |
|
rs776948121
|
|
Glycogen storage disease type II
|
G |
0.810 |
CausalMutation
|
CLINVAR |
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
|
9535769 |
1998 |
|
rs776948121
|
|
Glycogen storage disease type II
|
G |
0.810 |
CausalMutation
|
CLINVAR |
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
|
17723315 |
2007 |
|
rs776948121
|
|
Glycogen storage disease type II
|
G |
0.810 |
CausalMutation
|
CLINVAR |
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
|
7981676 |
1994 |
|
rs776948121
|
|
Glycogen storage disease type II
|
G |
0.810 |
CausalMutation
|
CLINVAR |
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
|
22658377 |
2012 |
|
rs776948121
|
|
Glycogen storage disease type II
|
G |
0.810 |
GeneticVariation
|
CLINVAR |
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
|
9535769 |
1998 |
|
rs776948121
|
|
Glycogen storage disease type II
|
G |
0.810 |
GeneticVariation
|
CLINVAR |
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
|
17723315 |
2007 |
|
rs776948121
|
|
Glycogen storage disease type II
|
G |
0.810 |
GeneticVariation
|
CLINVAR |
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
|
7981676 |
1994 |
|
rs776948121
|
|
Glycogen storage disease type II
|
G |
0.810 |
GeneticVariation
|
CLINVAR |
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
|
19588081 |
2009 |