title: Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report.
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.
authors.affiliation: Friedrich Schiller University Jena, Institute of Nutrition, Jena, Germany. Sylvia.Keller@uni-jena.de
authors.forename: Sylvia
authors.initials: S
authors.lastname: Keller
authors.forename: Danielle
authors.initials: D
authors.lastname: Prechtl
authors.forename: Charalampos
authors.initials: C
authors.lastname: Aslanidis
authors.forename: Uta
authors.initials: U
authors.lastname: Ceglarek
authors.forename: Joachim
authors.initials: J
authors.lastname: Thiery
authors.forename: Gerd
authors.initials: G
authors.lastname: Schmitz
authors.forename: Gerhard
authors.initials: G
authors.lastname: Jahreis
mesh_terms: D000071018:ATP Binding Cassette Transporter, Subfamily G, Member 5; D000071019:ATP Binding Cassette Transporter, Subfamily G, Member 8; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000097:blood* / Q000235:genetics*; D007410:Intestinal Diseases / Q000097:blood* / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood* / Q000235:genetics*; D008074:Lipoproteins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D010840:Phytosterols / Q000009:adverse effects / Q000097:blood*
chemical_list: C416945:ABCG5 protein, human; C416946:ABCG8 protein, human; D000071018:ATP Binding Cassette Transporter, Subfamily G, Member 5; D000071019:ATP Binding Cassette Transporter, Subfamily G, Member 8; D018528:ATP-Binding Cassette Transporters; D008074:Lipoproteins; D010840:Phytosterols