ArticleAmerican journal of human genetics1996
A 10-bp deletion in the apolipoprotein epsilon gene causing apolipoprotein E deficiency and severe type III hyperlipoproteinemia.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 32 citations in OpenAlex.
- Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.Journal of atherosclerosis and thrombosis · 2025Review
- Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene.Clinical genetics · 2022Review
- Crossroads between peripheral atherosclerosis, western-type diet and skeletal muscle pathophysiology: emphasis on apolipoprotein E deficiency and peripheral arterial disease.Journal of biomedical science · 2017Review
- Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene.Molecular genetics and metabolism reports · 2016Article
- Role of apolipoprotein E in neurodegenerative diseases.Neuropsychiatric disease and treatment · 2015Review
- Effects of the absence of apolipoprotein e on lipoproteins, neurocognitive function, and retinal function.JAMA neurology · 2014Article
- Metabolism, energetics, and lipid biology in the podocyte - cellular cholesterol-mediated glomerular injury.Frontiers in endocrinology · 2014Review
- ApoE-dependent plasticity in Alzheimer's disease.Journal of molecular neuroscience : MN · 2004Review
- Low-dose expression of a human apolipoprotein E transgene in macrophages restores cholesterol efflux capacity of apolipoprotein E-deficient mouse plasma.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- Liver-directed gene transfer and prolonged expression of three major human ApoE isoforms in ApoE-deficient mice.The Journal of clinical investigation · 1997Article
- Severe xanthomatosis associated with familial apolipoprotein E deficiency.Journal of clinical pathology · 1996Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Type III hyperlipoproteinemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2. We identified a 30-year-old male German of Hungarian ancestry with severe type III HLP and apo E deficiency. The disease was expressed in an extreme phenotype with multiple cutaneous xanthomas. Apo E was detectable only in trace amounts in plasma but not in the different lipoprotein fractions. Direct sequencing of PCR-amplified segments of the apo epsilon gene identified a 10-bp deletion in exon 4 (bp 4037-4046 coding for amino acids 209-212 of the mature protein). The mutation is predictive for a reading frameshift introducing a premature stop codon (TGA) at amino acid 229. By western blot analysis, we found small amounts of a truncated apo E in the patient's plasma. Family analysis revealed that the proband was homozygous--and 10 of 24 relatives were heterozygous--for the mutation. Heterozygotes had, as compared to unaffected family members, significantly higher triglycerides (TG), very low-density lipoprotein (VLDL) cholesterol and a significantly higher VLDL cholesterol-to-serum TG ratio, which is indicative of a delayed remnant catabolism. We propose that the absence of a functionally active apo E is the cause of the severe type III HLP in the patient and that the mutation, even in a single dose in heterozygotes, predisposes in variable severity to the phenotypic expression of the disease.
Indexed as
Identifiers
8571954PMC1914549W1571922283What OpenQuestion holds
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.