A case of Tangier disease with two novel mutations in the ATP-binding cassette transporter A1 gene / 대한내과학회지
Korean Journal of Medicine
;
: 241-246, 2010.
Article
in Korean
| WPRIM
| ID: wpr-121800
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 (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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Apolipoproteins
/
Tangier Disease
/
Exons
/
Cholesterol
/
Cholesterol Esters
/
Apolipoprotein A-I
/
Colon
/
Codon, Nonsense
/
ATP-Binding Cassette Transporters
/
Corneal Opacity
Limits:
Humans
Language:
Korean
Journal:
Korean Journal of Medicine
Year:
2010
Type:
Article
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