ArticleLipids in health and disease2016
A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis.
Article in Lipids in health and disease, 2016. 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 15 papers.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- AKR-001, an Fc-FGF21 Analog, Showed Sustained Pharmacodynamic Effects on Insulin Sensitivity and Lipid Metabolism in Type 2 Diabetes Patients.Cell reports. Medicine · 2020Trial
- Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants.Biochemical genetics · 2026Article
- Hypertriglyceridemic pancreatitis: perspectives from China.Current opinion in gastroenterology · 2025Review
- [Early Predictors for Hypertriglyceridemic Acute Pancreatitis].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2025Review
- Review
- Pancreatitis as a Main Consequence ofInternational journal of genomics · 2024Article
- Sequence Variant Analysis of theInternational journal of molecular sciences · 2023Article
- Comprehensive review on the pathogenesis of hypertriglyceridaemia-associated acute pancreatitis.Annals of medicine · 2023Review
- MiR-107 Regulates Adipocyte Differentiation and Adipogenesis by Targeting Apolipoprotein C-2 (Genes · 2022Article
- Triglyceride-rich lipoproteins and atherosclerotic cardiovascular disease risk: current status and treatments.Current opinion in endocrinology, diabetes, and obesity · 2021Review
- AAV-Mediated ApoC2 Gene Therapy: Reversal of Severe Hypertriglyceridemia and Rescue of Neonatal Death in ApoC2-Deficient Hamsters.Molecular therapy. Methods & clinical development · 2020Article
- A NovelThe application of clinical genetics · 2020Article
- Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis.Journal of cellular and molecular medicine · 2020Article
- 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
- Erratum to: A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis.Lipids in health and disease · 2016Article
Corrections and comments
- Erratum issued
Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe severe forms of hypertriglyceridemia are usually caused by genetic defects. In this study, we described a Chinese female with severe hypertriglyceridemia caused by a novel homozygous mutation in the APOC2 gene.
methodsLipid profiles of the pedigree were studied in detail. LPL and HL activity were also measured. The coding regions of 5 candidate genes (namely LPL, APOC2, APOA5, LMF1, and GPIHBP1) were sequenced using genomic DNA from peripheral leucocytes. The ApoE gene was also genotyped.
resultsSerum triglyceride level was extremely high in the proband, compared with other family members. Plasma LPL activity was also significantly reduced in the proband. Serum ApoCII was very low in the proband as well as in the heterozygous mutation carriers. A novel mutation (c.86A > CC) was identified on exon 3 [corrected] of the APOC2 gene, which converted the Asp [corrected] codon at position 29 into Ala, followed by a termination codon (TGA).
conclusionsThis study presented the first case of ApoCII deficiency in the Chinese population, with a novel mutation c.86A > CC in the APOC2 gene identified. Serum ApoCII protein might be a useful screening test for identifying mutation carriers.
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