Alternative name(s) : FHBL2, Familial combined hypocholesterolemia
Gene_locus : human-LIPC
Mutation : 1 mutation E97G_human-LIPC
Comment
A novel rare variant in the hepatic lipase phospholipase LIPC gene in a family who presents with dominant familial combined hypocholesterolemia. This gain-of-function variant (an increased lipolytic activity on phospholipids) makes LIPC the second identified gene, after ANGPTL3, causally involved in familial combined hypocholesterolemia. Most mutations in LIPC gene gives another syndrome: Familial human hepatic lipase deficiency, a rare recessive disorder. The disease then is characterised by premature atherosclerosis and abnormal circulating lipoproteins.| Title : Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined Hypocholesterolemia - Dijk_2022_Circulation__ |
| Author(s) : Dijk W , Di Filippo M , Kooijman S , van Eenige R , Rimbert A , Caillaud A , Thedrez A , Arnaud L , Pronk A , Garcon D , Sotin T , Lindenbaum P , Garcia EO , Pais de Barros JP , Duvillard L , Si-Tayeb K , Amigo N , Le Questel JY , Rensen PCN , Le May C , Moulin P , Cariou B |
| Ref : Circulation , : , 2022 |
| Abstract : Dijk_2022_Circulation__ |
| ESTHER : Dijk_2022_Circulation__ |
| PubMedSearch : Dijk_2022_Circulation__ |
| PubMedID: 35899625 |
| Gene_locus related to this paper: human-LIPC |