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Molecular basis of type III hyperlipoproteinemia in Germany

Type III hyperlipoproteinemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (Arg112→ Cys, Arg158→ Cys). This common apo E isoform is defective in its binding to lipoprotein receptors. However, other rare mutations in the apo ϵ gene may also, in part dominantly, predispose...

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Hauptverfasser: Feussner, Giso (VerfasserIn) , Feussner, Vera (VerfasserIn) , Hoffmann, Michael M. (VerfasserIn) , Lohrmann, Jens Dieter Wolfgang (VerfasserIn) , Wieland, Heinrich (VerfasserIn) , März, Winfried (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 1998
In: Human mutation
Year: 1998, Jahrgang: 11, Heft: 6, Pages: 417-423
ISSN:1098-1004
DOI:10.1002/(SICI)1098-1004(1998)11:6<417::AID-HUMU1>3.0.CO;2-5
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1002/(SICI)1098-1004(1998)11:6<417::AID-HUMU1>3.0.CO;2-5
Verlag, lizenzpflichtig, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/%28SICI%291098-1004%281998%2911%3A6%3C417%3A%3AAID-HUMU1%3E3.0.CO%3B2-5
Volltext
Verfasserangaben:Giso Feussner, Vera Feussner, Michael M. Hoffmann, Jens Lohrmann, Heinrich Wieland, Winfried März

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520 |a Type III hyperlipoproteinemia (HLP) is usually associated with homozygosity for apolipoprotein (apo) E2 (Arg112→ Cys, Arg158→ Cys). This common apo E isoform is defective in its binding to lipoprotein receptors. However, other rare mutations in the apo ϵ gene may also, in part dominantly, predispose to the disease. In order to assess the prevalence of rare apo E variants and mutations in the apo ϵ gene in Germany, we examined apo ϵ genotypes by restriction isotyping (RI) and apo E phenotypes by isoelectric focusing (IEF) in 107 German patients with type III HLP. Concordance between apo ϵ genotype and apo E phenotype was observed in 101 subjects (94.4%). Six individuals (5.6%) had genotypes and phenotypes other than E2/2. One subject was apparently homozygous for apo E2 by IEF, but heterozygous for ϵ3/2 by RI. Sequencing of the apo ϵ gene disclosed a hitherto undescribed point mutation (TGG→ TGA) at the third position of the codon for amino acid 20 (Trp), introducing a premature termination codon. This is the first study demonstrating that in the German population type III HLP is mainly associated with homozygosity for apo E2 (Arg112→ Cys, Arg158 → Cys) and that discrepancies between apo ϵ genotype and apo E phenotype are rare in this genetic condition. Hum Mutat 11:417-423, 1998. © 1998 Wiley-Liss, Inc. 
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