|
rs116928232
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The commonest genetic cause of cholesteryl ester storage disease is an exon 8 splice junction variant in the LIPA gene (rs116928232, c.894G>A; E8SJM) previously found to have an allele frequency of 0.0011 (1 in 450 individuals) in a large European population.
|
30056760 |
2019 |
|
rs116928232
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.
|
24072694 |
2013 |
|
rs116928232
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
|
8254026 |
1993 |
|
rs116928232
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.
|
9684740 |
1998 |
|
rs116928232
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
The c.894G>A mutation was found in homozygosity in four patients and, as compound heterozygosity, in association with a known (p.H295Y and p.G342R) or a novel (p.W140*) mutation in four other CESD patients.
|
22227072 |
2012 |
|
rs116928232
|
|
T |
0.740 |
GeneticVariation |
CLINVAR |
Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.
|
10562460 |
1999 |
|
rs116928232
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Meta-analysis of existing genetic studies estimated the prevalence of LAL-D as 1 per 160,000 (95% CI 1 per 65,025-761,652) using the allele frequency of c.894G>A in LIPA.
|
30315827 |
2019 |
|
rs116928232
|
|
T |
0.740 |
GeneticVariation |
CLINVAR |
Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease.
|
21757691 |
2011 |
|
rs116928232
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD).
|
7759067 |
1995 |
|
rs116928232
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Mutational analysis of the patient's blood showed the homozygous G-->A mutation at position -1 of the exon 8 splice donor site (E8SJM-allele) known for adult cholesteryl ester storage disease (CESD); the polymorphic background was that of the complex haplotype -6Thr, 2Gly, 894 G-->A.
|
10551400 |
1999 |
|
rs116928232
|
|
G |
0.740 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs116928232
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Moreover, future studies on CESD prevalence in African and Asian populations may require full-gene LIPA sequencing to determine heterozygote frequencies, since c.894G>A is not common in these racial groups.
|
23424026 |
2013 |
|
rs116928232
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.
|
8617513 |
1996 |
|
rs116928232
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Additionally, by surveying the available literature, c.894G>A was estimated to account for 60% (95% confidence interval [CI]: 51%-69%) of reported mutations among multiethnic CESD patients.
|
23424026 |
2013 |
|
rs116928232
|
|
T |
0.740 |
GeneticVariation |
CLINVAR |
The c.894G>A mutation was found in homozygosity in four patients and, as compound heterozygosity, in association with a known (p.H295Y and p.G342R) or a novel (p.W140*) mutation in four other CESD patients.
|
22227072 |
2012 |
|
rs116928232
|
|
T |
0.740 |
CausalMutation |
CLINVAR |
Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease.
|
23485521 |
2013 |
|
rs1204744283
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs121965086
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.
|
10562460 |
1999 |
|
rs121965086
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression.
|
7499245 |
1995 |
|
rs121965086
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity.
|
8617513 |
1996 |
|
rs121965086
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
|
8146180 |
1994 |
|
rs121965086
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals.
|
9633819 |
1998 |
|
rs121965086
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Orthotopic liver transplantation in an adult with cholesterol ester storage disease.
|
23430518 |
2013 |
|
rs121965086
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression.
|
7499245 |
1995 |
|
rs121965086
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Structural bases of Wolman disease and cholesteryl ester storage disease.
|
22138108 |
2012 |