|
rs119480069
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.710 |
GeneticVariation |
BEFREE |
We report clinical, biochemical, and molecular genetic observations and treatment outcomes for five Chinese children from four separate families presenting with sitosterolemia in whom we identified two new (Y329X, G269R) and three known (R446X, N437K, R389H) mutations in the ABCG5 gene.
|
20521169 |
2010 |
|
rs575266356
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.710 |
GeneticVariation |
UNIPROT |
Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.
|
15054092 |
2004 |
|
rs575266356
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.710 |
GeneticVariation |
UNIPROT |
In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1-2A>G).
|
11668628 |
2001 |
|
rs575266356
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.710 |
GeneticVariation |
UNIPROT |
Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.
|
11138003 |
2001 |
|
rs575266356
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.710 |
GeneticVariation |
UNIPROT |
Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.
|
11452359 |
2001 |
|
rs575266356
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.710 |
GeneticVariation |
BEFREE |
In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1-2A>G).
|
11668628 |
2001 |
|
rs119480069
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.710 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia].
|
29886606 |
2018 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
|
29353225 |
2018 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
|
28521186 |
2017 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Based on the third variant, a stop variant in ABCG5 (p.(Arg446*)), we established a diagnosis of sitosterolemia, confirmed by elevated blood plant sterol levels and successfully initiated targeted lipid-lowering treatment.
|
26813946 |
2016 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Infantile Cases of Sitosterolaemia with Novel Mutations in the ABCG5 Gene: Extreme Hypercholesterolaemia is Exacerbated by Breastfeeding.
|
25665839 |
2015 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.
|
24166850 |
2014 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Sitosterolemia presenting with severe hypercholesterolemia and intertriginous xanthomas in a breastfed infant: case report and brief review.
|
24423340 |
2014 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
[Clinical and gene study of three pedigrees of phytosterolemia associated with macrothrombocytopenia and hemolysis].
|
21729603 |
2011 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
We report clinical, biochemical, and molecular genetic observations and treatment outcomes for five Chinese children from four separate families presenting with sitosterolemia in whom we identified two new (Y329X, G269R) and three known (R446X, N437K, R389H) mutations in the ABCG5 gene.
|
20521169 |
2010 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.
|
20719861 |
2010 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases.
|
19111681 |
2009 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.
|
17976197 |
2007 |
|
rs199689137
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
Similar serum plant sterol responses of human subjects heterozygous for a mutation causing sitosterolemia and controls to diets enriched in plant sterols or stanols.
|
17228349 |
2007 |
|
rs119479067
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs758551848
|
ABCG5;ABCG8
|
Sitosterolemia
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
|
rs869025350
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs869025350
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1014715108
|
DYNC2LI1;ABCG5
|
Sitosterolemia
|
|
0.010 |
GeneticVariation |
BEFREE |
We report clinical, biochemical, and molecular genetic observations and treatment outcomes for five Chinese children from four separate families presenting with sitosterolemia in whom we identified two new (Y329X, G269R) and three known (R446X, N437K, R389H) mutations in the ABCG5 gene.
|
20521169 |
2010 |