ArticleThe Journal of clinical endocrinology and metabolism2009
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.
Article in The Journal of clinical endocrinology and metabolism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 63 citations in OpenAlex.
- 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
- Insulin Therapy for Acute Pancreatitis in a Patient With Lipase Maturation Factor 1 Mutation: A Case Report.Journal of community hospital internal medicine perspectives · 2025Article
- Identification of a Compound Heterozygous LMF1 Variants in a Patient with Severe Hypertriglyceridemia - Case Report and Literature Review.Journal of atherosclerosis and thrombosis · 2024Review
- Review
- The role of lipase maturation factor 1 in hypertriglyceridaemia and atherosclerosis: An update.SAGE open medicine · 2024Review
- A Heterozygous LMF1 Gene Mutation (c.1523C>T), Combined With an LPL Gene Mutation (c.590G>A), Aggravates the Clinical Symptoms in Hypertriglyceridemia.Frontiers in genetics · 2022Article
- Current Diagnosis and Management of Primary Chylomicronemia.Journal of atherosclerosis and thrombosis · 2021Review
- The Importance of Lipoprotein Lipase Regulation in Atherosclerosis.Biomedicines · 2021Review
- Genetic and functional studies of theMolecular genetics and metabolism reports · 2020Article
- Hypertriglyceridemia and Atherosclerosis: Using Human Research to Guide Mechanistic Studies in Animal Models.Frontiers in endocrinology · 2020Review
- A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient.Journal of atherosclerosis and thrombosis · 2019Article
- Lipase maturation factor 1 affects redox homeostasis in the endoplasmic reticulum.The EMBO journal · 2018Article
- Lipase maturation factor 1 (lmf1) is induced by endoplasmic reticulum stress through activating transcription factor 6α (Atf6α) signaling.The Journal of biological chemistry · 2014Article
- Purification, cellular levels, and functional domains of lipase maturation factor 1.Biochemical and biophysical research communications · 2014Article
- Embryonic viability, lipase deficiency, hypertriglyceridemia and neonatal lethality in a novel LMF1-deficient mouse model.Nutrition & metabolism · 2014Article
- Biochemistry and pathophysiology of intravascular and intracellular lipolysis.Genes & development · 2013Review
- APOA5 Q97X mutation identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family.BMC medical genetics · 2012Article
- Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.Journal of internal medicine · 2012Article
- The complex genetic basis of plasma triglycerides.Current atherosclerosis reports · 2012Review
Corrections and comments
- Erratum issued
Authors and funding
14 authors at 6 institutions in 3 countries.
Funding
Abstract
contextLipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X).
objectiveThe objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded.
resultsThe resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and recurrent episodes of pancreatitis. The mutation causes a G>A substitution in exon 9 (c.1395G>A), leading to a premature stop codon (W464X). LPL activity and mass were reduced by 76 and 50%, respectively, compared with normolipidemic controls. The proband over the years has shown a good response to treatment. The proband's son, heterozygous for the W464X, shows normal plasma triglyceride levels.
conclusionsWe identified the second novel pathogenic mutation in LMF1 gene in a patient with severe hypertriglyceridemia. LPL deficiency in our patient was milder than in the carrier of the Y439X previously described.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.