A Novel Nonsense Mutation of
ABCA8
atherosclerosis
cholesterol efflux
nonsense mutation
reduced HDL-c levels
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2020
2020
Historique:
received:
10
04
2020
accepted:
25
06
2020
entrez:
8
8
2020
pubmed:
8
8
2020
medline:
8
8
2020
Statut:
epublish
Résumé
Arteriosclerotic cardiovascular disease (ASCVD) is one of the major causes of death worldwide and most commonly develops as a result of atherosclerosis (AS). As we all know, dyslipidemia is a leading pathogenic risk factor for ASCVD, which leads to cardiac ischemic injury and myocardial infarction. Dyslipidemias include hypercholesterolemia, hypertriglyceridemia, increased low-density lipoprotein cholesterol (LDL-c) and decreased high density lipoproteins cholesterol (HDL-c). Mutations of dyslipidemia related genes have been proved to be the crucial contributor to the development of AS and ASCVD. In this study, a Han-Chinese family with ASCVD was enrolled and the lipid testing discovered an obvious reduced levels of HDL-c in the affected members. We then performed whole exome sequencing to detect the candidate genes of the family. After data filtering, a novel heterozygous nonsense mutation (NM_007168: c.3460C>T; p.R1154X) of
Identifiants
pubmed: 32760429
doi: 10.3389/fgene.2020.00755
pmc: PMC7373792
doi:
Types de publication
Case Reports
Langues
eng
Pagination
755Informations de copyright
Copyright © 2020 Wang, Chen, Jin, Du, Fan and Xiang.
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