title: Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.
abstract: Sitosterolemia is an autosomal recessive disorder caused by mutations in two adjacent genes encoding coordinately regulated ATP binding cassette (ABC) half transporters (ABCG5 and ABCG8). In this paper we describe three novel mutations causing sitosterolemia: 1) a frameshift mutation (c.336-337insA) in ABCG5 that results in premature termination of the protein at amino acid 197; 2) a missense mutation that changes a conserved residue c.1311C>G; N437K) in ABCG5 and 3) a splice site mutation in ABCG8 (IVS1-2A>G). This study expands the spectrum of the ABCG5 and ABCG8 mutations that cause sitosterolemia. Nine nonsynonymous polymorphisms are also reported: I523V, C600Y, Q604E, and M622V in ABCG5; and D19H, Y54C, T400K, A632V, and Y641F in ABCG8.
authors.affiliation: Departments of Molecular Genetics and Internal Medicine and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, TX, USA.
authors.forename: J A
authors.initials: JA
authors.lastname: Hubacek
authors.forename: K E
authors.initials: KE
authors.lastname: Berge
authors.forename: J C
authors.initials: JC
authors.lastname: Cohen
authors.forename: H H
authors.initials: HH
authors.lastname: Hobbs
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*; D002784:Cholesterol / Q000097:blood; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood* / Q000235:genetics*; D008074:Lipoproteins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics; D022821:RNA Splice Sites / Q000235:genetics; D012855:Sitosterols / Q000097:blood*; D044465:White People / Q000235:genetics
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; D022821:RNA Splice Sites; D012855:Sitosterols; C025473:gamma-sitosterol; D002784:Cholesterol