Familial hypercholesterolemia with cholesteryl ester transfer protein deficiency.
A 21-year-old male was clinically diagnosed with familial hypercholesterolemia (FH) by the manifestations of hypercholesterolemia, tendon xanthoma and family history of premature coronary heart disease. Low density lipoprotein receptor gene was analyzed in attempt to determine a possible point mutation. The normal sequence was partially preserved, and the patient was genetically diagnosed as a heterozygote of FH. In addition, screening for two cholesteryl ester transfer protein (CETP) gene mutations common to Japanese revealed the patient to be a heterozygote of CETP deficiency. A complication of two influential mutations for atherosclerotic ailments was genetically ascertained.
Department of Internal Medicine, Hokkaido Central Hospital for Social Health Insurance, Sapporo.
M
M
Kamigaki
M
M
Tsuji
J
J
Ishii
H
H
Chiba
H
H
Akita
T
T
Hirayama
M
M
Emi
D000328:Adult; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism*; D053480:Cholesterol Ester Transfer Proteins; D002788:Cholesterol Esters / Q000378:metabolism*; D005260:Female; D006023:Glycoproteins; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000235:genetics* / Q000378:metabolism*; D008055:Lipids / Q000097:blood; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011973:Receptors, LDL / Q000235:genetics
C506642:CETP protein, human; D002352:Carrier Proteins; D053480:Cholesterol Ester Transfer Proteins; D002788:Cholesterol Esters; D006023:Glycoproteins; D008055:Lipids; D011973:Receptors, LDL