ArticleJournal of clinical laboratory analysis2018
Rare LPL gene missense mutation in an infant with hypertriglyceridemia.
Article in Journal of clinical laboratory analysis, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Characterization of sexual dimorphism in ANGPTL4 levels and function.Journal of lipid research · 2024Article
- Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.BMC pediatrics · 2021Article
- A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia.Frontiers in pediatrics · 2021Article
- Rare LPL gene missense mutation in an infant with hypertriglyceridemia.Journal of clinical laboratory analysis · 2018Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSevere hypertriglyceridemia usually results from a combination of genetic and environmental factors and is most often attributable to mutations in the lipoprotein lipase (LPL) gene.
objectivesThe aim of this study was to identify rare mutations in the LPL gene causing severe hypertriglyceridemia.
methodsA Chinese infant who presented classical features of severe hypertriglyceridemia recruited for DNA sequencing of the LPL gene. The pathogenicity grade of the variants was defined based on the prediction of pathogenicity using in silico prediction tools. Review some studies to understand the molecular mechanisms underlying the severe hypertriglyceridemia.
resultsWe identified a rare mutation in the LPL gene causing severe hypertriglyceridemia: a nucleotide substitution (c.836T>G) resulting in a leucine to arginine substitution at position 279 of the protein (p.Leu279Arg).The pathogenicity of the variant was predicted by in silico analysis using PolyPhen2 and SIFT prediction programs, which indicated that mutation p.Leu279Arg is probably harmful. We have also reviewed published studies concerning the molecular mechanisms underlying severe hypertriglyceridemia. A missense mutation in the 6 exon of the LPL gene is reportedly associated with LPL deficiency.
conclusionsWe have here identified a rare pathogenic mutation in the LPL gene in a Chinese infant with severe hypertriglyceridemia.
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