A new apolipoprotein E mutation, apoE Las Vegas, in a European-American with lipoprotein glomerulopathy
Abstract
Lipoprotein glomerulopathy is a rare disease diagnosed by unique histopathologic findings of glomerular capillary dilatation by lipoprotein thrombi. The disease is caused by mutations in apoE, the gene that encodes apolipoprotein E. To date, <80 cases have been reported in the medical literature, nearly all of which are from Japan or China. Only five cases from the United States have previously been reported, of which three patients were of European ancestry. Here, we present the fourth case of lipoprotein glomerulopathy in a European-American man. Whereas prior European-American patients with lipoprotein glomerulopathy were found to have the previously reported apoE Kyoto genotype, the patient presented here was found to have a novel mutation that we have named apoE Las Vegas.
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LPG is more often reported in eastern Asian countries, but cases have also been observed in Europe and America.
“It is more often reported in eastern Asian countries, however cases have also been observed in Europe and America [2–4].”
From Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America (2021) · cites this paper as [4]
Five variants in helix 4 that were not in the LDL receptor binding site-APOE Kanto (Asp151dupAsp), APOE Las Vegas (Ala152Asp), APOE Chengdu (Leu155Pro), APOE1 (156_173del), and APOE Osaka/Kurashiki (Arg158Pro)-were reported to cause LPG.
“Five variants in helix 4 that were not in the LDL receptor binding site were identified (Fig.5), but were reported to cause LPG, namely, APOE Kanto (Asp151dupAsp)70, 80), APOE Las Vegas (Ala152Asp)81), APOE Chengdu (Leu155Pro)82), APOE1 (156_173del)83), and APOE Osaka/Kurashiki (Arg158Pro)84, 85).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [81]
Only 10 cases of LPG (including this one) have been reported from North America, and previously only 5 included gene sequencing.
“Only 10 cases of LPG (including this one) have been reported from North America,2,18,21–26 and previously only 5 of these included gene sequencing: 3 APOE Kyoto,18,23 1 APOE Chicago,22 1 APOE Las Vegas.25”
From Lipoprotein Glomerulopathy, First Case Report from Canada (2022) · cites this paper as [25]
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- Authors
- Bomback, A. S., Song, H., D'Agati, V. D., Cohen, S. D., Neal, A., Appel, G. B., & Rovin, B. H.
- Affiliations
- Columbia University Irving Medical Center (US)
- The Ohio State University (US)
- Columbia University (US)
- Corresponding author
- Bomback, A. S.
- Venue
- Nephrology Dialysis Transplantation
- Publisher
- Oxford University Press (OUP)
- Published
- 2010-07-11
- Volume
- 25
- Issue
- 10
- Pages
- 3442-3446
- ISSN
- 0931-0509 (ISSN-L)
- 1460-2385
- OpenAlex
- W2099845282
- Cited by
- 25
- References
- 0
- Citations by year
- 2025: 2 · 2024: 2 · 2022: 5 · 2021: 2 · 2019: 3 · 2018: 1 · 2016: 1 · 2014: 1 · 2013: 4 · 2012: 1
- FWCI
- 2.01
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Nephrology Dialysis Transplantation (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Nephrology › Renal Diseases and Glomerulopathies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Keywords
- lipoprotein glomerulopathy, apolipoprotein E, novel mutations
- MeSH terms
- Adult, Apolipoproteins E, Humans, Kidney Diseases, Kidney Glomerulus, Lipoproteins, Male, Mutation
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