A case of Tangier disease with two novel mutations in the ATP-binding cassette transporter A1 gene.
- Author:
Hyung Ki PARK
1
;
Seong O SUH
;
Seok Jin AHN
;
Jun Oh JUNG
;
Sang Jun PARK
;
Hee Jin KIM
;
Hyung Doo PARK
Author Information
1. Department of Internal Medicine, National Police Hospital, Seoul, Korea. tgrw100@hanmail.net
- Publication Type:Case Report
- Keywords:
Tangier Disease;
ATP binding cassette transporter 1;
Cholesterol, HDL;
Corneal opacity
- MeSH:
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
- From:Korean Journal of Medicine
2010;78(2):241-246
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
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.
