title: A novel mutation ApoE2 Kurashiki (R158P) in a patient with lipoprotein glomerulopathy.
abstract: 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.
authors.affiliation: Division of Nephrology and Hypertension, Department of Internal Medicine, Kawasaki Medical School, Okayama, Japan. ttokura@med.kawasaki-m.ac.jp
authors.forename: Takehiko
authors.initials: T
authors.lastname: Tokura
authors.forename: Seiji
authors.initials: S
authors.lastname: Itano
authors.forename: Shinya
authors.initials: S
authors.lastname: Kobayashi
authors.forename: Atsunori
authors.initials: A
authors.lastname: Kuwabara
authors.forename: Sohachi
authors.initials: S
authors.lastname: Fujimoto
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Horike
authors.forename: Minoru
authors.initials: M
authors.lastname: Satoh
authors.forename: Norio
authors.initials: N
authors.lastname: Komai
authors.forename: Naruya
authors.initials: N
authors.lastname: Tomita
authors.forename: Akira
authors.initials: A
authors.lastname: Matsunaga
authors.forename: Takao
authors.initials: T
authors.lastname: Saito
authors.forename: Tamaki
authors.initials: T
authors.lastname: Sasaki
authors.forename: Naoki
authors.initials: N
authors.lastname: Kashihara
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D053329:Apolipoprotein E2 / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D005838:Genotype; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000235:genetics; D007674:Kidney Diseases / Q000235:genetics* / Q000473:pathology*; D007678:Kidney Glomerulus / Q000378:metabolism* / Q000473:pathology*; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D053329:Apolipoprotein E2; D004247:DNA