Literature DB >> 22859420

APOE1 mutation in a patient with type III hyperlipoproteinaemia: detailed genetic analysis required.

M E Visser1, G M Dallinga-Thie, S J Pinto-Sietsma, J C Defesche, E S Stroes, P R van der Valk.   

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.

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Year:  2012        PMID： 22859420

Source DB:  PubMed          Journal:  Neth J Med        ISSN： 0300-2977            Impact factor:   1.422


  4 in total

Review 1.  Apolipoprotein E mutations: a comparison between lipoprotein glomerulopathy and type III hyperlipoproteinemia.

Authors:  Akira Matsunaga; Takao Saito
Journal:  Clin Exp Nephrol       Date:  2014-02-26       Impact factor: 2.801

2.  Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene.

Authors:  Trond P Leren; Thea Bismo Strøm; Knut Erik Berge
Journal:  Mol Genet Metab Rep       Date:  2016-10-25

Review 3.  Establishing the relationship between familial dysbetalipoproteinemia and genetic variants in the APOE gene.

Authors:  Britt E Heidemann; Charlotte Koopal; Alexis Baass; Joep C Defesche; Linda Zuurbier; Monique T Mulder; Jeanine E Roeters van Lennep; Niels P Riksen; Christopher Boot; A David Marais; Frank L J Visseren
Journal:  Clin Genet       Date:  2022-08-22       Impact factor: 4.296

Review 4.  Role of apolipoprotein E in neurodegenerative diseases.

Authors:  Vo Van Giau; Eva Bagyinszky; Seong Soo A An; Sang Yun Kim
Journal:  Neuropsychiatr Dis Treat       Date:  2015-07-16       Impact factor: 2.570
  4 in total

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