| A case of Tangier disease with two novel mutations in the ATP-binding cassette transporter A1 gene |
|
Hyung Ki Park, Seong O Suh, Seok Jin Ahn, Jun-Oh Jung, Sang Jun Park, Hee-Jin Kim, Hyung-Doo Park |
|
|
| ABCA1 유전자의 새로운 돌연변이로 인한 Tangier병 1예 |
|
박형기, 서승오, 안석진, 정준오, 박상준, 김희진, 박형두 |
|
|
|
|
|
|
| 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. (Korean J Med 78:241-246, 2010) |
| Key Words:
Tangier Disease; ATP binding cassette transporter 1; Cholesterol, HDL; Corneal opacity |
|
PDF Links
Full text via DOI
Download Citation
