ReviewJournal of atherosclerosis and thrombosis2024
Identification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia - Case Report and Literature Review.
Review in Journal of atherosclerosis and thrombosis, 2024. 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.
- A rare case of familial chylomicronemia in infancy due to homozygousJCEM case reports · 2026Article
- LMF1 frameshift deletion in Franches-Montagnes horses with hypertriglyceridemia-induced pancreatitis.Scientific reports · 2025Article
- An overview of persistent chylomicronemia: much more than meets the eye.Current opinion in endocrinology, diabetes, and obesity · 2025Review
- Identification and functional analysis of novel homozygous LMF1 variants in severe hypertriglyceridemia.Journal of clinical lipidologyArticle
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Authors and funding
4 authors.
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Abstract
Familial chylomicronemia syndrome (FCS) and multifactorial chylomicronemia (MCM), characterized by highly variable triglyceride levels with acute episodes of severe hypertriglyceridemia (HTG), are caused by rare variants in genes associated with the catabolism of circulating lipoprotein triglycerides, mainly including LPL, APOC2, APOA5, GPIHBP1, and LMF1. Among them, the LMF1 gene only accounts for 1%. This study described a Chinese patient with severe HTG carrying compound heterozygous variants of a rare nonsense variant p.W168X in exon 3 and a missense variant p.R416Q in exon 9 in the LMF1 gene. These heterozygous variants account for his family's decreased lipase activity and mass, which caused the FCS phenotype.
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