Failure of cosegregation between a rare STAP1 missense variant and hypercholesterolemia

Autosomal dominant familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels and increased risk for atherosclerotic cardiovascular disease. While rare pathogenic variants in genes encoding the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), proprotein convertase subtilisin/kexin 9 (PCSK9) are found in more than 80% of molecularly defined FH patients, a few rare minor causative genes have been proposed, including the gene encoding signal transducing adaptor family member 1 (STAP1).

Source: Journal of Clinical Lipidology - July 22, 2020 Category: Lipidology Authors: Reza Mohebi, Qinzhong Chen, Robert A. Hegele, Robert S. Rosenson Tags: Case Report Source Type: research