Tangier disease (TD) is a rare autosomal recessive disorder of lipoprotein metabolism characterized by extremely low levels of high-density lipoprotein cholesterol (HDL-C) and apolipoprotein (apo) A-I resulting in accumulation of cholesterol esters in various organs. TD is caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene. Here, we present the first case report of a Korean patient with TD. A 45-year-old man had corneal opacity, intestinal mucosa abnormalities, and extremely low levels of HDL-C (1.8 mg/dL) and apo A-I (<10 mg/dL), consistent with a diagnosis of TD. Histologically, foamy macrophages were recognized in the submucosa of the duodenum and colon. We performed PCR-sequencing for all ABCA1 coding exons to confirm genetic abnormalities. Two novel mutations in the ABCA1 gene were identified: i.e., c.3148G>T (p.G1050X) nonsense mutation and c.3202C>T (p.R1068C) missense mutation. The c.3202C>T mutation was not found in 192 normal control alleles.
Alleles ; Apolipoprotein A-I ; Apolipoproteins ; ATP-Binding Cassette Transporters ; Cholesterol ; Cholesterol Esters ; Cholesterol, HDL ; Clinical Coding ; Codon, Nonsense ; Colon ; Corneal Opacity ; Duodenum ; Exons ; Humans ; Intestinal Mucosa ; Lipoproteins ; Macrophages ; Middle Aged ; Mutation, Missense ; Tangier Disease