A family with complete deficiency of plasma cholesteryl ester transfer protein activities.
A 43-year-old male with a high value of high density lipoprotein cholesterol (151 mg/dl) was found among subjects receiving annual health checks. We investigated the cholesteryl ester transfer protein (CETP) activity and conducted a family study. There was complete deficiency of CETP activities in the proband and his sister, and partial deficiency of CETP activities in his mother and daughter. Genetic analysis revealed a splicing defect (G to A point mutation) in intron 14 of the CETP gene.
Makita
H
H
Department of Internal Medicine, Hokkaido Central Hospital for Social Health Insurance, Sapporo.
Tsuji
M
M
Furuya
Y
Y
Tsuchihashi
K
K
Akita
H
H
Chiba
H
H
D000328:Adult; D001053:Apolipoproteins / Q000097:blood*; D002352:Carrier Proteins / Q000097:blood* / Q000235:genetics; D053480:Cholesterol Ester Transfer Proteins; D008076:Cholesterol, HDL / Q000097:blood*; D004247:DNA / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005838:Genotype; D006023:Glycoproteins; D006801:Humans; D008055:Lipids / Q000097:blood*; D008297:Male; D010375:Pedigree; D017354:Point Mutation
D001053:Apolipoproteins; C506642:CETP protein, human; D002352:Carrier Proteins; D053480:Cholesterol Ester Transfer Proteins; D008076:Cholesterol, HDL; D006023:Glycoproteins; D008055:Lipids; D004247:DNA