AUTHOR=Shu Hong-Yan , Zhang Wei , Zheng Cong-Cong , Gao Man-Yun , Li Yong-Cun , Wang Yan-Gang 

TITLE=Identification and Functional Characterization of a Low-Density Lipoprotein Receptor Gene Pathogenic Variant in Familial Hypercholesterolemia

JOURNAL=Frontiers in Genetics

VOLUME=Volume 12 - 2021

YEAR=2021

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2021.650077

DOI=10.3389/fgene.2021.650077

ISSN=1664-8021

ABSTRACT=We report a single-point variant of low-density lipoprotein receptor (LDLR) in a Chinese proband with a clinical diagnosis of familial hypercholesterolemia (FH) with comprehensive functional analysis. Target exome capture-based next-generation sequencing was used for sequencing and identification genomic variants in the LDLR gene. The expression, cellular location and function of the mutant LDLR were analyzed. Sequencing of LDLR in FH patients indicated a point variant of a single base substitution (G