Korean J Med.  2010 Feb;78(2):241-246.

A case of Tangier disease with two novel mutations in the ATP-binding cassette transporter A1 gene

• Park HK
• Suh SO
• Ahn SJ
• Jung JO
• Park SJ
• Kim HJ
• Park HD

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.

Keyword

Tangier Disease; ATP binding cassette transporter 1; Cholesterol, HDL; Corneal opacity

MeSH Terms

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
ATP-Binding Cassette Transporters
Apolipoprotein A-I
Apolipoproteins
Cholesterol
Cholesterol Esters
Cholesterol, HDL
Codon, Nonsense
Lipoproteins