A nonsense mutation in the apolipoprotein A-I gene is associated with high-density lipoprotein deficiency and periorbital xanthelasmas

• Published in: Arteriosclerosis and thrombosis Vol. 14; no. 12; p. 1915
• Main Authors: Römling, R, von Eckardstein, A, Funke, H, Motti, C, Fragiacomo, G C, Noseda, G, Assmann, G
• Format: Journal Article
• Language: English
• Published: United States 01.12.1994
• Subjects: Adult; Apolipoprotein A-I - blood; Apolipoprotein A-I - genetics; Base Sequence; Cholesterol, HDL - blood; Cholesterol, HDL - deficiency; Codon, Nonsense; Coronary Disease; Eyelid Diseases - complications; Female; Homozygote; Humans; Molecular Sequence Data; Mutation; Pedigree; Xanthomatosis - complications
• ISSN: 1049-8834
• DOI: 10.1161/01.ATV.14.12.1915

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.