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KMID : 0882420100780020241
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Korean Journal of Medicine
2010 Volume.78 No. 2 p.241 ~ p.246
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A case of Tangier disease with two novel mutations in the ATP-binding cassette transporter A1 gene
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Park Hyung-Ki
Suh Seong-O
Ahn Seok-Jin
Jung Jun-Oh
Park Sang-Joon
Kim Hee-Jin
Park Hyung-Doo
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Abstract
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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.
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KEYWORD
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Tangier Disease, ATP binding cassette transporter 1, Cholesterol, HDL, Corneal opacity
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