Abstract:
: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 triglycerides 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.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Young SG,Bihain B,Flynn LM,Sanan DA,Ayrault-Jarrier M,Jacotot Bdoi
10.1093/hmg/3.5.741subject
Has Abstractpub_date
1994-05-01 00:00:00pages
741-4issue
5eissn
0964-6906issn
1460-2083journal_volume
3pub_type
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