Variant ID: 19-45412053-CTCC-C

NM_000041.2(APOE):c.500_502del;(p.Leu167del)

This variant was identified in 30 publications




Publications:


PCSK9 Gene Participates in the Development of Primary Dyslipidemias.

Balkan Journal Of Medical Genetics : Bjmg
D Matías-Pérez, AD Pérez-Santiago, MA Sánchez Medina, JJ Alpuche Osorno, IA García-Montalvo
Publication Date: 2021-06

Variant appearance in text: APOE: Leu167del
PubMed Link: 34447653
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.

Clinical Genetics
L Rieck, F Bardey, T Grenkowitz, L Bertram, J Helmuth, C Mischung, J Spranger, E Steinhagen-Thiessen, T Bobbert, U Kassner, I Demuth
Publication Date: 2020-11

Variant appearance in text: APOE: 500_502delTCC; Leu167del
PubMed Link: 32770674
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Transcriptomic Changes Related to Cellular Processes with Particular Emphasis on Cell Activation in Lysosomal Storage Diseases from the Group of Mucopolysaccharidoses.

International Journal Of Molecular Sciences
E Rintz, L Gaffke, M Podlacha, J Brokowska, Z Cyske, G Węgrzyn, K Pierzynowska
Publication Date: 2020-04-30

Variant appearance in text: APOE: Leu167del
PubMed Link: 32366041
Variant Present in the following documents:
  • Supplemental file
  • ijms-21-03194.pdf
View BVdb publication page



Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.

Jimd Reports
G Muñoz, D García-Seisdedos, C Ciubotariu, M Piris-Villaespesa, M Gandía, F Martín-Moro, LG Gutiérrez-Solana, M Morado, J López-Jiménez, A Sánchez-Herranz, J Villarrubia, FJ Del Castillo
Publication Date: 2020-01

Variant appearance in text: APOE: 500_502del; Leu167del
PubMed Link: 32071839
Variant Present in the following documents:
  • Main text
View BVdb publication page



Taking One Step Back in Familial Hypercholesterolemia: STAP1 Does Not Alter Plasma LDL (Low-Density Lipoprotein) Cholesterol in Mice and Humans.

Arteriosclerosis, Thrombosis, And Vascular Biology
N Loaiza, ML Hartgers, LF Reeskamp, JW Balder, A Rimbert, V Bazioti, JC Wolters, M Winkelmeijer, HPG Jansen, GM Dallinga-Thie, A Volta, N Huijkman, M Smit, N Kloosterhuis, M Koster, AF Svendsen, B van de Sluis, GK Hovingh, A Grefhorst, JA Kuivenhoven
Publication Date: 2020-04

Variant appearance in text: APOE: Leu167del
PubMed Link: 31996024
Variant Present in the following documents:
  • atv-40-973.pdf
View BVdb publication page



Genes Potentially Associated with Familial Hypercholesterolemia.

Biomolecules
S Mikhailova, D Ivanoshchuk, O Timoshchenko, E Shakhtshneider
Publication Date: 2019-11-29

Variant appearance in text: APOE: Leu167del
PubMed Link: 31795497
Variant Present in the following documents:
  • Main text
View BVdb publication page



Severe Combined Dyslipidemia With a Complex Genetic Basis.

Journal Of Investigative Medicine High Impact Case Reports
R Le, M Abbas, AD McIntyre, RA Hegele
Publication Date: 2019

Variant appearance in text: APOE: Leu167del
PubMed Link: 31538826
Variant Present in the following documents:
  • 10.1177_2324709619877050.pdf
  • Main text
View BVdb publication page



Evaluation of the role of STAP1 in Familial Hypercholesterolemia.

Scientific Reports
M Danyel, CE Ott, T Grenkowitz, B Salewsky, AA Hicks, C Fuchsberger, E Steinhagen-Thiessen, T Bobbert, U Kassner, I Demuth
Publication Date: 2019-08-19

Variant appearance in text: APOE: Leu167del
PubMed Link: 31427613
Variant Present in the following documents:
  • 41598_2019_Article_48402.pdf
View BVdb publication page



Lipid-lowering response in subjects with the p.(Leu167del) mutation in the APOE gene.

Atherosclerosis
AM Bea, I Lamiquiz-Moneo, V Marco-Benedí, R Mateo-Gallego, S Pérez-Calahorra, E Jarauta, C Martín, A Cenarro, F Civeira
Publication Date: 2019-03

Variant appearance in text: APOE: Leu167del
PubMed Link: 30731287
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia.

Atherosclerosis
M Futema, M Bourbon, M Williams, SE Humphries
Publication Date: 2018-10

Variant appearance in text: APOE: Leu167del
PubMed Link: 30270085
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia.

The Canadian Journal Of Cardiology
MA Iacocca, J Wang, S Sarkar, JS Dron, T Lagace, AD McIntyre, P Lau, JF Robinson, P Yang, JH Knoll, H Cao, R McPherson, RA Hegele
Publication Date: 2018-10

Variant appearance in text: APOE: Leu167del
PubMed Link: 30269829
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



A Novel Cause of Familial Hypercholesterolemia: PCSK9 Gene Duplication.

The Canadian Journal Of Cardiology
M Paquette, A Baass
Publication Date: 2018-10

Variant appearance in text: APOE: Leu167del
PubMed Link: 30269825
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Role of Apolipoprotein E gene polymorphism in the risk of familial hypercholesterolemia: a case-control study.

Acta Biochimica Polonica
TH Almigbal, MA Batais, RM Hasanato, FK Alharbi, IA Khan, KK Alharbi
Publication Date: 2018

Variant appearance in text: APOE: Leu167del
PubMed Link: 30235358
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



A Comparative Analysis of Phenotypic Predictors of Mutations in Familial Hypercholesterolemia.

The Journal Of Clinical Endocrinology And Metabolism
DC Chan, J Pang, AJ Hooper, DA Bell, TR Bates, JR Burnett, GF Watts
Publication Date: 2018-04-01

Variant appearance in text: APOE: Leu167del
PubMed Link: 29408959
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Usefulness of the genetic risk score to identify phenocopies in families with familial hypercholesterolemia?

European Journal Of Human Genetics : Ejhg
Y Ghaleb, S Elbitar, P El Khoury, E Bruckert, V Carreau, A Carrié, P Moulin, M Di-Filippo, S Charriere, H Iliozer, M Farnier, G Luc, JP Rabès, C Boileau, M Abifadel, M Varret
Publication Date: 2018-04

Variant appearance in text: APOE: 500_502delTCC; Leu167del
PubMed Link: 29374275
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry.

The Open Cardiovascular Medicine Journal
F Alallaf, FA H Nazar, M Alnefaie, A Almaymuni, OM Rashidi, K Alhabib, F Alnouri, MN Alama, M Athar, Z Awan
Publication Date: 2017

Variant appearance in text: APOE: Leu167del
PubMed Link: 28868092
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease
CS Paththinige, ND Sirisena, V Dissanayake
Publication Date: 2017-06-02

Variant appearance in text: APOE: Leu167del
PubMed Link: 28577571
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Architecture of Familial Hypercholesterolaemia.

Current Cardiology Reports
M Sharifi, M Futema, D Nair, SE Humphries
Publication Date: 2017-05

Variant appearance in text: APOE: Leu167del
PubMed Link: 28405938
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of Lipid and Lipoprotein Disorders and Traits.

Current Genetic Medicine Reports
JS Dron, RA Hegele
Publication Date: 2016

Variant appearance in text: APOE: Leu167del
PubMed Link: 28286704
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.

Pharmacological Reviews
NG Seidah, M Abifadel, S Prost, C Boileau, A Prat
Publication Date: 2017-01

Variant appearance in text: APOE: Leu167del
PubMed Link: 27920219
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene.

Molecular Genetics And Metabolism Reports
TP Leren, TB Strøm, KE Berge
Publication Date: 2016-12

Variant appearance in text: APOE: 500_502delTCC; Leu167del
PubMed Link: 27830118
Variant Present in the following documents:
  • Main text
View BVdb publication page



My Approach to the Patient With Familial Hypercholesterolemia.

Mayo Clinic Proceedings
MS Safarova, IJ Kullo
Publication Date: 2016-06

Variant appearance in text: APOE: Leu167del
PubMed Link: 27261867
Variant Present in the following documents:
  • NIHMS854049-supplement-Supplemental.pdf
View BVdb publication page



The p.Leu167del Mutation in APOE Gene Causes Autosomal Dominant Hypercholesterolemia by Down-regulation of LDL Receptor Expression in Hepatocytes.

The Journal Of Clinical Endocrinology And Metabolism
A Cenarro, A Etxebarria, I de Castro-Orós, M Stef, AM Bea, L Palacios, R Mateo-Gallego, A Benito-Vicente, H Ostolaza, T Tejedor, C Martín, F Civeira
Publication Date: 2016-05

Variant appearance in text: APOE: 500_502delTCC; Leu167del
PubMed Link: 27014949
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Global molecular analysis and APOE mutations in a cohort of autosomal dominant hypercholesterolemia patients in France.

Journal Of Lipid Research
R Wintjens, D Bozon, K Belabbas, F MBou, JP Girardet, P Tounian, M Jolly, F Boccara, A Cohen, A Karsenty, B Dubern, JC Carel, A Azar-Kolakez, F Feillet, F Labarthe, AM Gorsky, A Horovitz, C Tamarindi, P Kieffer, A Lienhardt, O Lascols, M Di Filippo, F Dufernez
Publication Date: 2016-03

Variant appearance in text: APOE: 500_502del; Leu167del
PubMed Link: 26802169
Variant Present in the following documents:
  • 10.1194_P055699_jlr.P055699-3.xls
  • Main text
  • jlrP055699.pdf
View BVdb publication page



Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
AM Medeiros, AC Alves, M Bourbon
Publication Date: 2016-04

Variant appearance in text: APOE: Leu167del
PubMed Link: 26020417
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page



Exome sequencing in suspected monogenic dyslipidemias.

Circulation. Cardiovascular Genetics
NO Stitziel, GM Peloso, M Abifadel, AB Cefalu, S Fouchier, MM Motazacker, H Tada, DB Larach, Z Awan, JF Haller, CR Pullinger, M Varret, JP Rabès, D Noto, P Tarugi, MA Kawashiri, A Nohara, M Yamagishi, M Risman, R Deo, I Ruel, J Shendure, DA Nickerson, JG Wilson, SS Rich, N Gupta, DN Farlow, BM Neale, MJ Daly, JP Kane, MW Freeman, J Genest, DJ Rader, H Mabuchi, JJ Kastelein, GK Hovingh, MR Averna, S Gabriel, C Boileau, S Kathiresan
Publication Date: 2015-04

Variant appearance in text: APOE: L167del
PubMed Link: 25632026
Variant Present in the following documents:
  • Main text
View BVdb publication page



Proprotein convertase subtilisin/kexin type 9 (PCSK9): lessons learned from patients with hypercholesterolemia.

Clinical Chemistry
Z Awan, A Baass, J Genest
Publication Date: 2014-11

Variant appearance in text: APOE: Leu167del
PubMed Link: 25248569
Variant Present in the following documents:
  • Supplemental file
View BVdb publication page



Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.

Human Molecular Genetics
AC Alves, A Etxebarria, AK Soutar, C Martin, M Bourbon
Publication Date: 2014-04-01

Variant appearance in text: APOE: Leu167del
PubMed Link: 24234650
Variant Present in the following documents:
  • Supplemental file
  • Main text
View BVdb publication page



Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.

Human Mutation
M Marduel, K Ouguerram, V Serre, D Bonnefont-Rousselot, A Marques-Pinheiro, K Erik Berge, M Devillers, G Luc, JM Lecerf, L Tosolini, D Erlich, GM Peloso, N Stitziel, P Nitchké, JP Jaïs, , M Abifadel, S Kathiresan, TP Leren, JP Rabès, C Boileau, M Varret
Publication Date: 2013-01

Variant appearance in text: APOE: 500_502delTCC; Leu167del
PubMed Link: 22949395
Variant Present in the following documents:
  • Main text
  • NIHMS448288-supplement-Supplement.doc
View BVdb publication page



Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation.

European Journal Of Human Genetics : Ejhg
L Faivre, P Saugier-Veber, JP Pais de Barros, B Verges, B Couret, B Lorcerie, C Thauvin, F Charbonnier, F Huet, P Gambert, T Frebourg, L Duvillard
Publication Date: 2005-11

Variant appearance in text: APOE: 499_501delCTC; Leu167del
PubMed Link: 16094309
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000252486.4 c.502_504del p.Arg168del inframe_deletion 4/4 -
ENST00000425718.1 c.502_504del p.Arg168del inframe_deletion 3/3 -
ENST00000434152.1 c.580_582del p.Arg194del inframe_deletion 4/4 -
ENST00000446996.1 c.502_504del p.Arg168del inframe_deletion 4/4 -
NM_000041.4 c.502_504del p.Arg168del inframe_deletion 4/4 -
NM_001302688.2 c.580_582del p.Arg194del inframe_deletion 4/4 -
NM_001302689.2 c.502_504del p.Arg168del inframe_deletion 4/4 -
NM_001302690.1 c.502_504del p.Arg168del inframe_deletion 4/4 -
NM_001302691.2 c.502_504del p.Arg168del inframe_deletion 4/4 -