Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants.

Abstract excerpt

Hypertriglyceridemia is mostly associated with secondary conditions in children but can also result from monogenic disorders. The most prevalent genes identified as the underlying reason for impaired clearance of triglycerides from plasma by genome-wide association studies are the LPL, APOC2, APOA5, LMF1, APOE and GPIHBP1 genes. In this study, 26 pediatric patients with primary hypertriglyceridemia, 12 of whom...

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• Adolescent
• Child
• Child, Preschool
• High-Throughput Nucleotide Sequencing
• Hypertriglyceridemia