|
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
|
|
|
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
|
|
|
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
|
|
|
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 |
|
rs1423914418
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The dosage of serum lysosomal acid lipase was undetectable and we found the presence of a rare homozygous mutation in the gene associated with the lysosomal acid lipase deficiency, (allele c.386A > G homozygous p.H129R).
|
31113597 |
2020 |
|
rs1457072724
|
|
|
0.710 |
GeneticVariation |
BEFREE |
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 |
|
rs267607218
|
|
|
0.710 |
GeneticVariation |
BEFREE |
The WD patients, all deceased before the first year of age, were homozygous for two novel mutations (c.299+1G>A and c.419G>A) or a mutation (c.796G>T) previously reported as compound heterozygosity in a CESD patient.
|
22227072 |
2012 |
|
rs587778878
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry.
|
21291321 |
2011 |
|
rs776472526
|
|
|
0.710 |
GeneticVariation |
BEFREE |
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 |
|
rs1357012145
|
|
|
0.010 |
GeneticVariation |
BEFREE |
DNA sequence and restriction fragment length polymorphism analysis demonstrated that the patient was a compound heterozygote for the prevalent CESD exon 8 splice site mutation (G934A) and the deletion of a C (nucleotide 673, 674, or 675) in exon 6 of the hLAL gene, resulting in premature termination of protein translation at residue 195.
|
10735626 |
2000 |
|
rs770407719
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Since the residual LAL activity is higher and the clinical phenotype based on plasma lipid values and severity of hepatosplenomegaly is milder in this case than in a previously studied case who was homozygous for the E8SJM allele, we conclude that the L336P variant appears to be associated with a phenotypically mild form of CESD.
|
7773732 |
1995 |
|
rs771640357
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To the best of our knowledge, this is the second Tunisian case of secondary HLH complicating lysosomal acid lipase deficiency related to a new homozygous mutation: c.966G>C (p.Gln322His).
|
31318819 |
2019 |
|
rs775189464
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The only exception was a substitution at nucleotide 866 in the CESD case without an exon 8 splicing mutation; expression of the predicted S289C change in a transfection assay produced a low, but clearly measurable, level of acid esterase activity.
|
10562460 |
1999 |
|
rs939203331
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A further CESD patient was hemizygous for a His108-->Arg missense mutation (CAT-->CGT) in combination with a partial deletion of the LAL gene and was affected more severely.
|
9633819 |
1998 |
|
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
|
|
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 |
|
rs121965086
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.
|
8598644 |
1995 |
|
rs121965086
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.
|
10562460 |
1999 |
|
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 |