Novel PCSK9 (Proprotein Convertase Subtilisin Kexin Type 9) Variants in Patients With Familial Hypercholesterolemia From Cape Town

Familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein-cholesterol and markedly increased cardiovascular risk. In patients with a genetic diagnosis, low-density lipoprotein receptor (LDLR) mutations account for >90% of cases, apolipoprotein B (APOB) mutations for ≈5% of cases, while proprotein convertase subtilisin kexin type 9 (PCSK9) gain of function mutations are rare (T) was found in 5 index patients and cascade screening identified 15 additional carriers. Low-density lipoprotein-cholesterol levels were higher in these 15 carriers compared with the 27 noncarriers (236±73 versus 124±35 mg/dL; P
This work was funded by Regeneron: R727-CL-1555. Grants received from the Fritz Thyssen Foundation, Amsterdam Stollings Foundation, that is, the Jan Wouter ten Cate Prize, Amsterdam University Funds, and the Atheros Foundation to R. Huijgen. Grants received from Academic Medical Center Young Talent Fund, grant received by the Academic Medical Center Foundation, and the Atheros Foundation to M.L. Hartgers. Grants received from Programme de Recherche Hospitalière en Santé ANR-16-RHUS-0007 to K. Chemello and G. Lambert. Grants received from Basque Government (Grupos Consolidados IT1264-19) to A. Benito-Vicente, K.B. Uribe, and C. Martin.