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

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

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

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

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8 Citations (Scopus)

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

Original language	English
Pages (from-to)	278-280
Journal	Netherlands journal of medicine
Volume	70
Issue number	6
Publication status	Published - 2012

Cite this

@article{5553fb230bd543da9d4473d4ba4d1433,

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",

author = "Visser, {M. E.} and Dallinga-Thie, {G. M.} and Pinto-Sietsma, {S. J.} and Defesche, {J. C.} and Stroes, {E. S.} and {van der Valk}, {P. R.}",

year = "2012",

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volume = "70",

pages = "278--280",

journal = "Netherlands journal of medicine",

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T1 - APOE1 mutation in a patient with type III hyperlipoproteinaemia: detailed genetic analysis required

AU - Visser, M. E.

AU - Dallinga-Thie, G. M.

AU - Pinto-Sietsma, S. J.

AU - Defesche, J. C.

AU - Stroes, E. S.

AU - van der Valk, P. R.

PY - 2012

Y1 - 2012

N2 - 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

AB - 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

M3 - Article

C2 - 22859420

SN - 0300-2977

VL - 70

SP - 278

EP - 280

JO - Netherlands journal of medicine

JF - Netherlands journal of medicine

IS - 6

ER -