Clinical and functional studies of two novel variants in the LPL gene in subjects with severe hypertriglyceridemia

• Published in: Clinica chimica acta Vol. 487; pp. 22 - 27
• Main Authors: Plengpanich, Wanee, Kiateprungvej, Arunrat, Charoen, Supannika, Khovidhunkit, Weerapan
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.12.2018
• Subjects: Adult; Cells, Cultured; Female; Genetic Variation - genetics; Humans; Hypertriglyceridemia - enzymology; Insertion; Lipoprotein Lipase - genetics; Lipoprotein Lipase - metabolism; LPL; LPL activity; LPL mass; Male; Middle Aged; Mutation; Novel; Severity of Illness Index; Young Adult; Insertion; LPL; Novel; Mutation; LPL activity; LPL mass

Two novel variants (p.Arg270Gly and p.Asp308Glyfs*3) in the LPL gene have recently been identified in subjects with hypertriglyceridemia (HTG). In this study, we investigated clinical and genetic features of their families and examined the functional significance of these two variants in vitro. Clin...