Marked high density lipoprotein deficiency due to apolipoprotein A-I Tomioka (codon 138 deletion)》.pdfVIP

Atherosclerosis 207 (2009) 157–161 Contents lists available at ScienceDirect Atherosclerosis j o u rn al h omepage: w w w. elsev /locate/atherosclerosi s Marked high density lipoprotein deficiency due to apolipoprotein A-I Tomioka (codon 138 deletion) Masamichi Wada a,1, Tatsuya Iso b,c,1, Bela F. Asztalos e , Noriaki Takama a , Tadashi Nakajima a , Yukihiro Seta a , Katsumi Kaneko a , Yasuhiro Taniguchi a , Hideo Kobayashi d , Katsuyuki Nakajima e , Ernst J. Schaefer e , Masahiko Kurabayashi b,c,∗ a Tomioka General Hospital, Cardiology Division, Tomioka, Gunma, Japan b Department of Medicine and Biological Science, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan c Education and Research Center, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan d Tomioka General Hospital, Opthalmology Division, Tomioka, Gunma, Japan e Lipid Metabolism Laboratory, Human Nutrition Research Center on Aging at Tufts University and Tufts University School of Medicine, Boston, MA, USA a r t i c l e i n f o a b s t r a c t Article history: We report a novel apolipoprotein A-I (apoA-I) mutation identified in a 64-year-old patient with marked Received 9 February 2009 plasma high density lipoprotein (HDL) cholesterol (4 mg/dl) and apoA-I (5 mg/dl) deficiency, prior myocar- Received in revised form 7 April 2009 dial infarction, and moderate corneal opacities. Coronary angiography revealed extensive atherosclerosis Accepted 13 April 2009 in all three major vessels. Genomic DNA sequencing of the proband revealed a homozygous