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...
Gespeichert in:
| Hauptverfasser: | , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
January 1996
|
| 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 
|
| Verfasserangaben: | G. Feussner, M. Albanese, W.A. Mann, A. Valencia, H. Schuster |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1915924804 | ||
| 003 | DE-627 | ||
| 005 | 20250716225317.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 250129s1996 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1046/j.1365-2362.1996.83232.x |2 doi | |
| 035 | |a (DE-627)1915924804 | ||
| 035 | |a (DE-599)KXP1915924804 | ||
| 035 | |a (OCoLC)1528018015 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Feussner, Giso |e VerfasserIn |0 (DE-588)1111522685 |0 (DE-627)865591776 |0 (DE-576)476134900 |4 aut | |
| 245 | 1 | 0 | |a Apolipoprotein E2 (Arg-136→Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemia |c G. Feussner, M. Albanese, W.A. Mann, A. Valencia, H. Schuster |
| 246 | 3 | 3 | |a Apolipoprotein E2 (Arg-136 into Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemia |
| 264 | 1 | |c January 1996 | |
| 300 | |a 11 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 29.01.2025 | ||
| 520 | |a 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. | ||
| 650 | 4 | |a apo E2 (Arg-136→Cys) | |
| 650 | 4 | |a Apolipoprotein E | |
| 650 | 4 | |a dominant mode of inheritance | |
| 650 | 4 | |a dysbetalipoproteinaemia | |
| 650 | 4 | |a type III hyperlipoproteinaemia | |
| 700 | 1 | |a Albanese, Marco |e VerfasserIn |0 (DE-588)1121254969 |0 (DE-627)874205859 |0 (DE-576)176595392 |4 aut | |
| 700 | 1 | |a Mann, W. A. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Valencia, Alfonso |e VerfasserIn |0 (DE-588)1354758684 |0 (DE-627)191592409X |4 aut | |
| 700 | 1 | |a Schuster, H. |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t European journal of clinical investigation |d Oxford [u.a.] : Wiley-Blackwell, 1970 |g 26(1996), 1, Seite 13-23 |h Online-Ressource |w (DE-627)320441423 |w (DE-600)2004971-7 |w (DE-576)091142695 |x 1365-2362 |7 nnas |a Apolipoprotein E2 (Arg-136→Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemia |
| 773 | 1 | 8 | |g volume:26 |g year:1996 |g number:1 |g pages:13-23 |g extent:11 |a Apolipoprotein E2 (Arg-136→Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemia |
| 856 | 4 | 0 | |u https://doi.org/10.1046/j.1365-2362.1996.83232.x |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://onlinelibrary.wiley.com/doi/abs/10.1046/j.1365-2362.1996.83232.x |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20250129 | ||
| 993 | |a Article | ||
| 994 | |a 1996 | ||
| 998 | |g 1121254969 |a Albanese, Marco |m 1121254969:Albanese, Marco |d 50000 |e 50000PA1121254969 |k 0/50000/ |p 2 | ||
| 998 | |g 1111522685 |a Feussner, Giso |m 1111522685:Feussner, Giso |d 910000 |d 910100 |e 910000PF1111522685 |e 910100PF1111522685 |k 0/910000/ |k 1/910000/910100/ |p 1 |x j | ||
| 999 | |a KXP-PPN1915924804 |e 4658782588 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"titleAlt":[{"title":"Apolipoprotein E2 (Arg-136 into Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemia"}],"note":["Gesehen am 29.01.2025"],"type":{"bibl":"article-journal","media":"Online-Ressource"},"language":["eng"],"recId":"1915924804","title":[{"title_sort":"Apolipoprotein E2 (Arg-136→Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemia","title":"Apolipoprotein E2 (Arg-136→Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemia"}],"person":[{"given":"Giso","family":"Feussner","role":"aut","roleDisplay":"VerfasserIn","display":"Feussner, Giso"},{"family":"Albanese","given":"Marco","display":"Albanese, Marco","roleDisplay":"VerfasserIn","role":"aut"},{"role":"aut","roleDisplay":"VerfasserIn","display":"Mann, W. A.","given":"W. A.","family":"Mann"},{"family":"Valencia","given":"Alfonso","display":"Valencia, Alfonso","roleDisplay":"VerfasserIn","role":"aut"},{"given":"H.","family":"Schuster","role":"aut","roleDisplay":"VerfasserIn","display":"Schuster, H."}],"physDesc":[{"extent":"11 S."}],"relHost":[{"physDesc":[{"extent":"Online-Ressource"}],"type":{"bibl":"periodical","media":"Online-Ressource"},"disp":"Apolipoprotein E2 (Arg-136→Cys), a variant of apolipoprotein E associated with late-onset dominance of type III hyperlipoproteinaemiaEuropean journal of clinical investigation","language":["eng"],"recId":"320441423","pubHistory":["1.1970/71 -"],"part":{"issue":"1","pages":"13-23","year":"1996","extent":"11","text":"26(1996), 1, Seite 13-23","volume":"26"},"origin":[{"dateIssuedDisp":"1970-","dateIssuedKey":"1970","publisher":"Wiley-Blackwell ; Blackwell Science ; Blackwell","publisherPlace":"Oxford [u.a.] ; Oxford [u.a.] ; Oxford [u.a.]"}],"title":[{"title_sort":"European journal of clinical investigation","title":"European journal of clinical investigation","subtitle":"the journal of the European Society for Clinical Investigation"}],"id":{"issn":["1365-2362"],"doi":["10.1111/(ISSN)1365-2362"],"eki":["320441423"],"zdb":["2004971-7"]}}],"origin":[{"dateIssuedKey":"1996","dateIssuedDisp":"January 1996"}],"id":{"doi":["10.1046/j.1365-2362.1996.83232.x"],"eki":["1915924804"]},"name":{"displayForm":["G. Feussner, M. Albanese, W.A. Mann, A. Valencia, H. Schuster"]}} | ||
| SRT | |a FEUSSNERGIAPOLIPOPRO1996 | ||