Characterization of the First PCSK9 Gain of Function Homozygote

Gain of function (GOF) mutations in proprotein convertase subtilisin kexin type 9 ( PCSK9 ) are a rare cause of familial hypercholesterolemia (FH). We identified a child with a clinical diagnosis of FH with 2 novel putative PCSK9 GOF missense variants (p.[(Ala62Asp)]; [(Pro467Ala)]), and no