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Article

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

The Netherlands journal of medicine - 1 Aug 2012

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

Abstract excerpt

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...

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PMID: 22859420

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