Scientific Publications

Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia.

Publication TypeJournal Article
AuthorsStitziel, NO, Fouchier SW, Sjouke B., Peloso GM, Moscoso AM, Auer PL, Goel A., Gigante B., Barnes TA, Melander O., Orho-Melander M., Duga S., Sivapalaratnam S., Nikpay M., Martinelli N., Girelli D., Jackson RD, Kooperberg C., Lange LA, Ardissino D., McPherson R., Farrall M., Watkins H., Reilly MP, Rader DJ, de Faire U., Schunkert H., Erdmann J., Samani NJ, Charnas L., Altshuler D., Gabriel S., Kastelein JJ, Defesche JC, Nederveen AJ, Kathiresan S., Hovingh GK, and for theand National Heart, Lung Blood Institute GO Exome Sequencing Project
AbstractAutosomal 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 hypercholesterolemia in this family.
Year of Publication2013
JournalArteriosclerosis, thrombosis, and vascular biology
Date Published (YYYY/MM/DD)2013/09/26
ISSN Number1079-5642