ArticleLipids in health and disease2014
A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis.
Article in Lipids in health and disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.Frontiers in endocrinology · 2024Pooled it
- Case Report: Clinical and genetic analysis of a family with hereditary spherocytosis combined with familial chylomicronemia syndrome.Frontiers in genetics · 2026Article
- Association of lipoprotein lipaseArchives of endocrinology and metabolism · 2024Article
- Loss-of-Function Homozygous Variant inKidney international reports · 2023Article
- Pseudohyponatremia: Mechanism, Diagnosis, Clinical Associations and Management.Journal of clinical medicine · 2023Review
- Identification and Characterization of Two Novel Compounds: Heterozygous Variants ofFrontiers in endocrinology · 2022Article
- A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia.Frontiers in pediatrics · 2021Article
- Genetic Variants of Lipoprotein Lipase and Regulatory Factors Associated with Alzheimer's Disease Risk.International journal of molecular sciences · 2020Review
- AAV-Mediated ApoC2 Gene Therapy: Reversal of Severe Hypertriglyceridemia and Rescue of Neonatal Death in ApoC2-Deficient Hamsters.Molecular therapy. Methods & clinical development · 2020Article
- Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis.Journal of cellular and molecular medicine · 2020Article
- Management of severe hypertriglyceridemia due to lipoprotein lipase deficiency in childrenEndocrinology, diabetes & metabolism case reports · 2019Article
- Compound but non-linked heterozygous p.W14X and p.L279 V LPL gene mutations in a Chinese patient with long-term severe hypertriglyceridemia and recurrent acute pancreatitis.Lipids in health and disease · 2018Article
- Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.Lipids in health and disease · 2015Article
- Sequential blood purification therapy for critical patients with hyperlipidemic severe acute pancreatitis.World journal of gastroenterology · 2015Observational
- Relationship between lipoprotein lipase gene polymorphism and hemorrhagic stroke in a Chinese population.International journal of clinical and experimental medicine · 2015Article
- Association of apolipoprotein A5 genetic polymorphisms with steroid-induced osteonecrosis of femoral head in a Chinese Han population.Diagnostic pathology · 2014Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAlterations or mutations in the lipoprotein lipase (LPL) gene contribute to severe hypertriglyceridemia (HTG). This study reported on two patients in a Chinese family with LPL gene mutations and severe HTG and acute pancreatitis.
methodsTwo patients with other five family members were included in this study for DNA-sequences of hyperlipidemia-related genes (such as LPL, APOC2, APOA5, LMF1, and GPIHBP1) and 43 healthy individuals and 70 HTG subjects were included for the screening of LPL gene mutations.
resultsBoth patients were found to have a compound heterozygote for a novel LPL gene mutation (L279V) and a known mutation (A98T). Furthermore, one HTG subject out of 70 was found to carry this novel LPL L279V mutation.
conclusionsThe data from this study showed that compound heterozygote mutations of A98T and L279V inactivate lipoprotein lipase enzymatic activity and contribute to severe HTG and acute pancreatitis in two Chinese patients. Further study will investigate how these LPL gene mutations genetically inactivate the LPL enzyme.
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