Keller, Sylvia and Prechtl, Danielle and Aslanidis, Charalampos and Ceglarek, Uta and Thiery, Joachim and Schmitz, Gerd and Jahreis, Gerhard (2011) Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: A case report. EUROPEAN JOURNAL OF MEDICAL GENETICS, 54 (4). E458-E460. ISSN 1769-7212,
Full text not available from this repository. (Request a copy)Abstract
Whilst conducting a scientific study, an elevated plasma plant sterol concentration of 3.07 mg/dL was established in one proband. Similar levels found in his mothers plasma (2.73 mg/dL) were suggestive of a heterozygous sitosterolemia. The resulting gene analysis for ATP binding cassette transporter G5/G8 (ABCG5/G8) revealed a heterozygous polymorphism in ABCG8 (Thr400Lys, rs4148217), which the proband had inherited from his father. However, a heterozygous amino acid exchange (Arg406Gln) in exon 9 of ABCG5 was revealed, which was inherited from his mother. Although not sufficient evidence exists to regard this sequence variation as a mutation, this previously unreleased sequence variation occurred in a "hot spot" area for sitosterolemia of the ABCG5 gene (exon 9) and the similar increased plasma plant sterol concentrations of the heterozygous mother contribute to the notion, that this very likely presents an inactivating mutation. (C) 2011 Elsevier Masson SAS. All rights reserved.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | SITOSTEROLEMIA; GENE; DISEASE; MUTATION; RISK; Plant sterol; Sitosterol; ABCG5; ABCG8; Sitosterolemia |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 08 Jun 2020 10:03 |
| Last Modified: | 08 Jun 2020 10:03 |
| URI: | https://pred.uni-regensburg.de/id/eprint/20572 |
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