Asymptomatic homozygous hypobetalipoproteinemia associated with apolipoprotein B45.2
| Autor: | Stephen G. Young, Bihain B, David A. Sanan, Ayrault-Jarrier M, Bernard Jacotot, Laura M. Flynn |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
medicine.medical_specialty
Apolipoprotein B Nonsense mutation Gene mutation Biology Asymptomatic Hypobetalipoproteinemias chemistry.chemical_compound Internal medicine Genetics medicine Humans Vitamin E Molecular Biology Alleles Genetics (clinical) Apolipoproteins B Sequence Deletion Cholesterol Homozygote Cholesterol LDL General Medicine Middle Aged medicine.disease Endocrinology chemistry Low-density lipoprotein Mutation biology.protein Female lipids (amino acids peptides and proteins) Vitamin E deficiency Hypobetalipoproteinemia medicine.symptom |
| Zdroj: | Human Molecular Genetics. 3:741-744 |
| ISSN: | 1460-2083 0964-6906 |
| DOI: | 10.1093/hmg/3.5.741 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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