© 1995 American Heart Association, Inc.
Articles |
A New Case of ApoA-I Deficiency Showing Codon 8 Nonsense Mutation of the ApoA-I Gene Without Evidence of Coronary Heart Disease
Presented in part at the 10th International Symposium on Atherosclerosis, Montreal, Canada, October 11, 1994.
From the Department of Internal Medicine (K.T., M.T.), Hiroshima Railway Hospital, Hiroshima; the Departments of Internal Medicine and Pathology (K.S., H.B., S.J., R.L., K.A.), Fukuoka University School of Medicine, Fukuoka; the Department of Pediatrics (T.O.), Kumamoto University School of Medicine, Kumamoto; the Department of Cardiology (H.S.), Hiroshima City Hospital, Hiroshima; and the Department of Internal Medicine (G.K.), Hiroshima University School of Medicine, Hiroshima, Japan. The first two authors contributed equally to this work.
Correspondence to Keijiro Saku, MD, Department of Internal Medicine, Fukuoka University School of Medicine, 45-1-7 Nanakuma Jonanku, Fukuoka 814-01, Japan.
Abstract We report a 39-year-old Japanese man with HDL
and apoA-I deficiency as well as data from members of his family.
Corneal opacity and a stomatocyte were found but not tonsillar
hypertrophy, xanthomas, or splenomegaly. His serum HDL
cholesterol, apoA-I, apoA-II, and LDL
cholesterol levels were 6 mg/dL, <3 mg/dL, 6 mg/dL, and
175 mg/dL, respectively. Plasma triglyceride, phospholipid,
apoB, apoC-III, and apoE levels were all within normal limits.
Lecithin:cholesterol acyltransferase activity was half of
normal, while lipoprotein lipase and hepatic triglyceride
lipase activities were within normal limits. ApoA-I deficiency was
confirmed by combined isoelectric focusing and sodium dodecyl
sulfate–polyacrylamide gel electrophoresis and by an
immunoblotting method. We surveyed the apoA-I gene of the patient and
five of his family members by direct sequencing after amplification by
polymerase chain reaction and found a codon 8 nonsense mutation
(TGG
TAG, Trpstop) in exon 3 of the apoA-I gene. The results of a
pedigree analysis by DNA sequencing and restricted fragment
length polymorphism (Sty I) were consistent with
an autosomal codominant trait. Coronary angiography was
performed to evaluate coronary atherosclerosis,
but no significant luminal narrowing was detected. An
intracoronary ultrasound study showed mild intimal
hyperplasia in segment 6. In summary, this is a case of apoA-I
deficiency without evidence of coronary heart disease.
Key Words: atherosclerosis • coronary heart disease • gene • HDL-deficient syndrome • intravascular ultrasound imaging
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