Fig. 2.

LDL-C distribution at 9 years of age in sequenced children.

Red dashed lines indicate FH diagnostic LDL-C cut-points (1.84 MoM, 1.66 MoM, and 1.58 MoM). Five of six mutation carriers (marked red) had LDL-C above the cut-points. Two children carried a loss-of-function variant (p.Arg46Leu) in the PCSK9 gene, known to lower LDL-C (marked green) [6], [26]. One child was found to have a rare PCSK9 variant (p.His553Arg) associated with increased LDL-C (marked orange) [27]. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)