In vitro assessment of the pathogenicity of the LDLR c.2160delC variant in familial hypercholesterolemia.

ABSTRACT:

Background

Familial hypercholesterolemia (FH) is an inherited disorder with markedly elevated low-density lipoprotein cholesterol (LDL-C) and premature atherosclerotic cardiovascular disease. Although many mutations have been reported in FH, only a few have been identified as pathogenic mutations. This study aimed to confirm the pathogenicity of the LDL receptor (LDLR) c.2160delC variant in FH.

Methods

In this study, the proband and her family members were systematically investigated, and a pedigree map was drawn. High-throughput whole-exome sequencing was used to explore the variants in this family. Next, quantitative polymerase chain reaction (qPCR), western blot (WB) assays, and flow cytometry were conducted to detect the effect of the LDLR c.2160delC variant on its expre

SUBMITTER: Lin S 

PROVIDER: S-EPMC10280840 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature