title: APOE1 mutation in a patient with type III hyperlipoproteinaemia: detailed genetic analysis required.
abstract: We present the case of a patient with clinical features of familial dysbetalipoproteinaemia (FD) including high levels of total cholesterol, hypertriglyceridaemia and the presence of palmar xanthomas. Whereas genotype analysis identified the APOE3E3 isoform, sequence analysis revealed the presence of one APOE1 allele due to a mutation, p.Lys164Glu, which leads to loss of function of apolipoprotein E (ApoE), a rare cause of dominant FD.
authors.affiliation: Department of Vascular Medicine, Academic Medical Center, Amsterdam, the Netherlands.
authors.forename: M E
authors.initials: ME
authors.lastname: Visser
authors.forename: G M
authors.initials: GM
authors.lastname: Dallinga-Thie
authors.forename: S J
authors.initials: SJ
authors.lastname: Pinto-Sietsma
authors.forename: J C
authors.initials: JC
authors.lastname: Defesche
authors.forename: E S
authors.initials: ES
authors.lastname: Stroes
authors.forename: P R
authors.initials: PR
authors.lastname: van der Valk
mesh_terms: D002784:Cholesterol; D006801:Humans; D006952:Hyperlipoproteinemia Type III; D015228:Hypertriglyceridemia; D009154:Mutation
chemical_list: D002784:Cholesterol