A Novel Mutation ApoE2 Kurashiki (R158P) in a Patient with Lipoprotein Glomerulopathy

Takehiko Tokura; Seiji Itano; Shinya Kobayashi; Atsunori Kuwabara; Sohachi Fujimoto; Hideyuki Horike; Minoru Satoh; Norio Komai; Naruya Tomita; Akira Matsunaga; Takao Saito; Tamaki Sasaki; Naoki Kashihara

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A Novel Mutation ApoE2 Kurashiki (R158P) in a Patient with Lipoprotein Glomerulopathy

机译：脂蛋白肾小球病患者的新型突变ApoE2仓敷（R158P）

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Lipoprotein glomerulopathy (LPG) is a rare glomerulopathy caused by lipoprotein thrombi. In almost all cases of LPG, several apolipoprotein (apo) E mutations were reported. Here, we present a case of LPG caused by a novel mutation that we named ApoE2 Kurashiki, which substitutes arginine with proline at apoE codon 158. ApoE2 polymorphism is well known for its relationship to type III hyperlipoproteinemia, and the common apoE2 isoform is encoded by the R158C allele. ApoE2 Kurashiki substitutes at the same codon and cannot be distinguished from common apoE2 by stan-dard apoE genotyping or phenotyping.

机译：脂蛋白肾小球病（LPG）是由脂蛋白血栓引起的罕见肾小球病。在几乎所有的LPG病例中，都报告了几种载脂蛋白（apo）E突变。在这里，我们介绍了一个由新突变导致的LPG案例，我们将其命名为ApoE2 Kurashiki，该突变在apoE密码子158处用脯氨酸替代精氨酸。ApoE2多态性因其与III型高脂蛋白血症的关系而闻名，常见的apoE2亚型由R158C等位基因。 ApoE2仓敷（Kurashiki）替换为同一密码子，无法通过标准apoE基因分型或表型区别于普通apoE2。

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《Journal of atherosclerosis and thrombosis.》 |2011年第6期|共6页
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Takehiko Tokura; Seiji Itano; Shinya Kobayashi; Atsunori Kuwabara; Sohachi Fujimoto; Hideyuki Horike; Minoru Satoh; Norio Komai; Naruya Tomita; Akira Matsunaga; Takao Saito; Tamaki Sasaki; Naoki Kashihara;
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中图分类心脏、血管（循环系）疾病;
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1. Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations [J] . Mingxin Yang, Qinjie Weng, Xiaoxia Pan, Molecular Genetics & Genomic Medicine . 2020,第8期

机译：Apoe突变引起的脂蛋白肾小球病患者的临床和遗传分析
2. Screening for apolipoprotein E gene mutations in 4 patients with lipoprotein glomerulopathy [J] . 潘永利中国医学文摘：内科学分册（英文版） . 2006,第004期

机译：脂蛋白性肾小球病4例载脂蛋白E基因突变的筛查
3. A novel apolipoprotein E mutation (p.Arg150Cys) in a Chinese patient with lipoprotein glomerulopathy [J] . Ming Ku, Cai Tao, An-An Zhou, 中华医学杂志（英文版） . 2019,第002期

机译：中国脂蛋白性肾小球病患者的新型载脂蛋白E突变（p.Arg150Cys）
4. The metabolic status of leucocytes at patients with tubulopathy and glomerulopathy [C] . Muravlyova L., Molotov-Luchanskiy V., Kluyev D., World Congress on Immunopathology Respiratory Allergy . 2012

机译：微管病变和肾小球病患者白细胞的代谢状态
5. Mutation profiling in colorectal cancer patients with microsatellite instability; High frequency of BRCA2 and EGFR somatic mutations [D] . Deihimi, Safoora. 2016

机译：具有微卫星不稳定性的大肠癌患者的突变谱； BRCA2和EGFR体细胞突变的频率高
6. Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America [O] . Joaquim Nelito da Silveira-Neto, Guilherme Jinson de Oliveira Ahn, Precil Diego Miranda de Menezes Neves, 2021

机译：与大阪/ kurashiki Apoe变体相关的脂蛋白肾小球病：拉丁美洲确定了两种情况
7. A Novel Mutation ApoE2 Kurashiki (R158P) in a Patient with Lipoprotein Glomerulopathy [O] . Takehiko Tokura, Seiji Itano, Shinya Kobayashi, 2011

机译：脂蛋白肾小球病的患者中的一种新型突变apoe2 kurashiki（R158p）

A Novel Mutation ApoE2 Kurashiki (R158P) in a Patient with Lipoprotein Glomerulopathy

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