J Genet Med.  2012 Jun;9(1):38-41. 10.5734/JGM.2012.9.1.38.

A Korean Family with Cholesterol Ester Transfer Protein Deficiency

  • 1Department of Pediatrics, College of Medicine, Soonchunhyang University, Seoul, Korea. ldh@schmc.ac.kr
  • 2Department of Pediatrics, Seoul Seong Ae Hospital, Seoul, Korea.


A 32-year-old female patient and her sister show high levels of high density lipoprotein (HDL) cholesterol in regular health checkups, since female patient was 11 years old. The patient's serum total cholesterol was 285 mg/dL and HDL cholesterol was 113 mg/dL. Her sister's total cholesterol was 240 mg/dL and the HDL cholesterol measured to be 90 mg/dL. Lipoprotein pattern and cholesteryl ester transfer activity gene analysis were examined in these patients. We found c.1321+1G>A (IVS14+1G/A) hetero mutation in cholesteryl ester transfer protein (CETP) genes. Generally, CETP mediates transfer and exchange of triglycerides and cholesteryl ester between plasma lipoproteins. Also we investigated a key role of HDL-CE and Apo A-1 metabolism. Patients with low levels of CETP have increased serum HDL levels. We hereby report two Korean cases of CETP deficiency in a family. Brief literature review ensues with the cases.


Cholesteryl ester transfer protein; High density lipoprotein; Hypercholesterolemia
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