ABCMdb

PMID: 21664501

Keller S, Prechtl D, Aslanidis C, Ceglarek U, Thiery J, Schmitz G, Jahreis G
Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report.
Eur J Med Genet. 2011 Jul-Aug;54(4):e458-60. Epub 2011 May 23., [PubMed]

Sentences

No. Mutations Sentence Comment

3 ABCG8 p.Thr400Lys 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. Login to comment 4 ABCG5 p.Arg406Gln However, a heterozygous amino acid exchange (Arg406Gln) in exon 9 of ABCG5 was revealed, which was inherited from his mother. Login to comment 50 ABCG8 p.Thr400Lys A heterozygous nucleotide change (c.1199C > A; NM_022437.2) resulting in an amino acid exchange (Thr400Lys, ACG400AAG; NP_071882.1) was found for the ABCG8 gene. Login to comment 53 ABCG8 p.Thr400Lys Koeijvoets et al. [12] did not find an association between the polymorphism Thr400Lys in ABCG8 and cardiovascular endpoints. Login to comment 55 ABCG5 p.Arg406Gln In the ABCG5 gene, a heterozygote nucleotide change (c.1217G > A) determined in the samples of the proband and his mother resulted in an amino acid exchange (Arg406Gln, CGG406CAG) in exon 9. Login to comment 57 ABCG5 p.Arg419His ABCG5 p.Arg389His ABCG5 p.Arg419Pro ABCG5 p.Asn437Lys ABCG5 p.Arg550Ser ABCG5 p.Glu146Gln ABCG5 p.Gly269Arg In addition to splicing, insertions, deletion, and complete rearrangement of the ABCG5 gene,13 mutations with an amino acid exchange resulting in sitosterolemia are published (Gln22Term [14], Glu77Term [15], Glu146Gln [16], Arg243Term [17], Gly269Arg, Tyr329Term [7], Arg389His, Arg408Term, Arg419His, Arg419Pro [17], Asn437Lys [18], Arg446Term [1], Arg550Ser [16]). Login to comment 58 ABCG5 p.Arg419His ABCG5 p.Arg389His ABCG5 p.Arg419Pro ABCG5 p.Asn437Lys ABCG5 p.Arg406Gln Five of the 13 mutations are located in exon 9 of the ABCG5 gene (Arg389His, Arg408Term, Arg419His, Arg419Pro, Asn437Lys) corresponding to our findings regarding the amino acid exchange Arg406Gln. Login to comment 61 ABCG5 p.Arg406Gln Conclusion We present a case report demonstrating a male proband with an increased plasma plant sterol concentration (3.07 mg/dL) and a heterozygous amino acid exchange (Arg406Gln) in the exon 9 of the ABCG5 gene. Login to comment