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© 1994 Oxford University Press

OTHER

Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2

Stephen G.Young*, Bernard Bihaln1, Laura M. Flynn, David A. Sanan, Marise Ayrault-Jarrier2 and Bernard Jacotot2

Gladstone Institute of Cardiovascular Disease PO Box 419100. San Francisco, CA 94141–9100, USA 1Service de Biochemie, Universite de Rennes 1 2 Avenue du Pr. Leon Bernard, 35043 Rennes Cedex 2INSERM Unit 32 and Department of Internal Medicine V Hopital Henri-Mondor, F 94010 Creteil Cedex, France

* To whom correspondence should be addressed

Received January 24, 1994; Accepted March 10, 1994

Familial hypobetalipoproteinemia is caused by apolipoprotein (apo) B gene mutations and is frequently associated with a truncated apo-B protein In the plasma. Homozygosity for mutations yielding a truncated apo-B is extremely rare; fewer than five true homozygotes have been described in the world's literature. These patients typically have normal levels of triglycerldes and virtually absent low density lipoprotein (LDL) cholesterol. The clinical status of these patients is variable, ranging from asymptomatic in two homozygotes who synthesized a truncated apo-B (apo-B87) to severe neurological disease resulting from vitamin E deficiency in a homozygote who synthesized a shorter apo-B (apo-B50). In this report, we describe a 48-year-old female homozygous for a nonsense mutation resulting in an even shorter apo-B, apo-B45.2. Although this individual had virtually no LDL cholesterol, she was asymptomatic and had normal plasma levels of vitamin E. This case demonstrates that homozygosity for an apo-B mutation associated with a relatively short apo-B truncation can be completely asymptomatic.


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