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TL;DR
This cohort study used whole-exome sequencing in 30 Chinese pediatric patients with persistent hypercholesterolemia and identified pathogenic or likely pathogenic variants in 63.33% of patients, most commonly in LDLR and ABCG5/ABCG8.
BMC Pediatrics · 10 authors, 4 centres
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This cohort study used whole-exome sequencing in 30 Chinese pediatric patients with persistent hypercholesterolemia and identified pathogenic or likely pathogenic variants in 63.33% of patients, most commonly in LDLR and ABCG5/ABCG8.
Whole-exome sequencing was performed on 30 Chinese pediatric patients with persistent hypercholesterolemia to identify genetic defects. Sixty-three point three three percent of patients yielded positive genetic results. Patients with positive genetic results had significantly greater ApoB and Lp(a) levels compared to those with negative results. Five of 19 genetically positive patients carried ABCG5/ABCG8 variants, and 50% of patients with xanthomas had at least one such variant.