Open AccessMutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia
Author(s) -
Sigrid W. Fouchier,
Geesje M. DallingaThie,
Joost C.M. Meijers,
Noam Zelcer,
John J.P. Kastelein,
Joep C. Defesche,
G. Kees Hovingh
Publication year - 2014
Publication title -
circulation research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.899
H-Index - 336
eISSN - 1524-4571
pISSN - 0009-7330
DOI - 10.1161/circresaha.115.304660
Subject(s) - pcsk9 , proband , missense mutation , genetics , kexin , ldl receptor , locus (genetics) , biology , proprotein convertase , apolipoprotein b , medicine , sanger sequencing , familial hypercholesterolemia , exome sequencing , endocrinology , exome , lipoprotein , cholesterol , gene , mutation
Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease. ADH is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B, or proprotein convertase subtilisin/kexin 9. A number of patients, however, suffer from familial hypercholesterolemia 4 (FH4), defined as ADH in absence of mutations in these genes and thereafter use the abbreviation FH4.
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