title: A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas.
abstract: Conflicting data from epidemiological trials, genetic family studies, transgenic animal models, and in vitro experiments have created controversy regarding the importance of HDL and apolipoprotein (apo) A-I for reverse cholesterol transport and protection from atherosclerosis. In this study we identified a homozygous nonsense mutation in codon 32 (Q32X) of the apoA-I gene as the molecular basis of apoA-I deficiency in a 31-year-old woman who did not present with clinical signs of atherosclerosis. Despite half-normal plasma concentrations of HDL cholesterol and apoA-I in subjects heterozygous for this mutation, the history of the patient's large family did not indicate any increased prevalence of myocardial infarction.
authors.affiliation: Institut für Arterioskleroseforschung, Westfälische Wilhelms-Universität Münster, FRG.
authors.forename: R
authors.initials: R
authors.lastname: Römling
authors.forename: A
authors.initials: A
authors.lastname: von Eckardstein
authors.forename: H
authors.initials: H
authors.lastname: Funke
authors.forename: C
authors.initials: C
authors.lastname: Motti
authors.forename: G C
authors.initials: GC
authors.lastname: Fragiacomo
authors.forename: G
authors.initials: G
authors.lastname: Noseda
authors.forename: G
authors.initials: G
authors.lastname: Assmann
mesh_terms: D000328:Adult; D016632:Apolipoprotein A-I / Q000097:blood / Q000235:genetics*; D001483:Base Sequence; D008076:Cholesterol, HDL / Q000097:blood / Q000172:deficiency*; D018389:Codon, Nonsense; D003327:Coronary Disease; D005141:Eyelid Diseases / Q000150:complications*; D005260:Female; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D014973:Xanthomatosis / Q000150:complications*
chemical_list: D016632:Apolipoprotein A-I; D008076:Cholesterol, HDL; D018389:Codon, Nonsense