Apolipoprotein E2 (Arg-136→Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemia
Type III hyperlipoproteinaemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (Arg-158→Cys). We identified a 46-year-old white female with severe hyperlipidaemia and the heterozygous apo E3/2* phenotype. Typical clinical characteristics of type III HLP, i.e. palmar xanthom...
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| Hauptverfasser: | , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
January 1996
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| In: |
European journal of clinical investigation
Year: 1996, Jahrgang: 26, Heft: 1, Pages: 13-23 |
| ISSN: | 1365-2362 |
| DOI: | 10.1046/j.1365-2362.1996.83232.x |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1046/j.1365-2362.1996.83232.x Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1046/j.1365-2362.1996.83232.x 
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| Verfasserangaben: | G. Feussner, M. Albanese, W.A. Mann, A. Valencia, H. Schuster |
| Zusammenfassung: | Type III hyperlipoproteinaemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (Arg-158→Cys). We identified a 46-year-old white female with severe hyperlipidaemia and the heterozygous apo E3/2* phenotype. Typical clinical characteristics of type III HLP, i.e. palmar xanthomas (orange-yellowish discolorations of the palmar creases) and tuberoeruptive xanthomas, were present in the patient. Without therapy the patient's serum triglycerides (1.098 mg dL−1), cholesterol (546 mg dL-1), very low-density lipoprotein (VLDL) cholesterol (372 mg dL−1) and the apo E concentration (25.0 mg dL−1) were distinctly elevated as well as her VLDL cholesterol to serum triglyceride (TG) ratio at 0.34 (normal ratio about 0.2). Direct sequencing of polymerase chain reaction (PCR)-amplified segments of the apo ε gene identified a thymine for cytosine (C→T) exchange in the first base of codon 136 that is predictive for a Cys (TGC) for Arg (CGC) substitution in the encoded amino acid sequence. Two children, an 18-year-old female with the heterozygous apo E4/2* phenotype, a 25-year-old female with the heterozygous apo E3/2* phenotype and the 73-year-old father of the proband with the heterozygous apo E3/2* phenotype are also carriers of the rare mutant. The father has severe atherosclerosis and lipid values compatible with the diagnosis of type III HLP. The affected children have hyper/dyslipidaemia but as yet no clinical expression of the disease. We propose that in the analysed family this rare apo E2 (Arg-136→Cys) variant is associated with late-onset dominance of type III HLP. |
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| Beschreibung: | Gesehen am 29.01.2025 |
| Beschreibung: | Online Resource |
| ISSN: | 1365-2362 |
| DOI: | 10.1046/j.1365-2362.1996.83232.x |