Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.

Journal article

OBJECTIVE: Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1. We identified a family with autosomal recessive hypercholesterolemia not explained by mutations in LDLRAP1 or other genes known to cause monogenic hypercholesterolemia. The aim of this study was to identify the molecular pathogenesis of autosomal recessive hypercholestero...

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Authors: Stitziel, N; Fouchier, S; Sjouke, B; Peloso, G; Moscoso, A

• Publication status: Published
• Journal: Arteriosclerosis, thrombosis, and vascular biology
• Volume: 33
• Issue: 12
• Pages: 2909-2914
• Publication date: 2013-12-01
• DOI: 10.1161/atvbaha.113.302426
• EISSN: 1524-4636
• ISSN: 1079-5642
• Language: English
• Keywords: Triglycerides; Cholesterol; Heredity; Young Adult; Cholesterol, HDL; Genetic Predisposition to Disease; Genetic Testing; Mutation; Cholesterol, LDL; National Heart, Lung, and Blood Institute GO Exome Sequencing Project; Exome; Phenotype; Sterol Esterase; Hypercholesterolemia; Middle Aged; Adult; Male; Liver; Predictive Value of Tests; Biological Markers; Pedigree; Female; Humans; Principal Component Analysis; DNA Mutational Analysis; Cholesterol Ester Storage Disease; Linear Models; Homozygote