© 1998 American Heart Association, Inc.
Original Contributions |
A Truncated Species of Apolipoprotein B (B-38.7) in a Patient With Homozygous Hypobetalipoproteinemia Associated With Diabetes Mellitus
From the Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, Tokyo (K.O., S.I., J.i.-O., Y.Y., N.Y.), and the Third Department of Internal Medicine, Wakayama Medical College, Wakayama (M.Y., S.Y.), Japan.
Correspondence to Shun Ishibashi, MD, Third Department of Internal Medicine, Faculty of Medicine, University of Tokyo, 7–3-1 Hongo, Bunkyo-ku, Tokyo 113, Japan. E-mail ishibash-tky{at}umin.u-tokyo.ac.jp
Abstract—Familial
hypobetalipoproteinemia is caused by
mutations in the apolipoprotein (apo) B gene. We identified a
57-year-old woman whose plasma total cholesterol and apoB
levels were 2.17 mmol/L and 0.03 g/L, respectively. Separation of
plasma lipoproteins by sodium dodecyl
sulfate–polyacrylamide gel electrophoresis revealed the
absence of apoB-100 and the presence of a faster-migrating form of apoB
with an apparent Mr of 195 kDa. Direct
sequencing of a polymerase chain reaction–amplified fragment of the
patient's apoB gene DNA revealed a single C
T transition at
nucleotide 5472 that converts glutamine 1755 (CAA) to a
stop codon (TAA). We predict this novel nonsense mutation of the apoB
gene to produce a truncated protein that contains 1754 amino-terminal
amino acid residues of apoB-100. We designated this mutant form of apoB
apoB-38.7 by following the centile nomenclature of the apoB species.
The same mutation was found in both of her children. The proband
revealed clinical findings of retinitis pigmentosa, acanthocytosis, and
loss of deep tendon reflexes that are characteristic of severe
hypobetalipoproteinemia. In addition,
the proband had type II diabetes mellitus with nephropathy,
anemia, cholelithiasis, hepatic hemangioma, bronchiectasis, and
extensive calcification of major arteries including, the celiac,
splenic, and renal. In summary, we have found a novel truncated apoB,
apoB-38.7, in a patient with an unusual presentation of
hypobetalipoproteinemia that includes
diabetes mellitus and extensive arterial calcification.
Key Words: diabetes mellitus • retinitis pigmentosa • proteinuria • arterial calcification • peripheral neuropathy
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