PCSK9 and familial hypercholesterolemia: Notably, one of the carriers of the PDHX Gln248Ter variant was in the top 0.03% for LDL-C in the whole INTERVAL cohort (4.1 mmol/l, 158.0 mg/dl) and had no predicted deleterious missense mutations in known hypercholesterolemia genes (PCSK9, APOB or LDLR) suggesting this novel protein-truncating variant may be a genetic cause for their high LDL-C levels.