New mutations in APOB100 involved in familial hypobetalipoproteinemia.

Abstract

Familial hypolipoproteinemia (FHBL) is characterized by an inherited low plasma level of apolipoprotein B containing lipoproteins. FHBL may be caused by mutations of APOB. Individuals with FHBL typically have intestinal malabsorption and frequently suffer from a deficiency of fat-soluble vitamins. Most mutations that cause FHBL are APOB truncating mutations. Here we describe a patient with FHBL caused by a novel truncating mutation together with a novel missense mutation.

• Authors: Klaus Brusgaard, Lars Kjaersgaard, Anne-Birthe Bo Hansen, Steffen Husby
• Journal: Journal of clinical lipidology (J Clin Lipidol) 2010 May-Jun Vol. 4 Issue 3 Pg. 181-4 ISSN: 1933-2874 [Print] United States
• PMID: 21122650 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2010 National Lipid Association. Published by Elsevier Inc. All rights reserved.

Chemical References

• Apolipoprotein B-100
• Codon, Nonsense
• Vitamin A
• Vitamin E

Topics

• Amino Acid Substitution
• Apolipoprotein B-100 (blood, deficiency, genetics)
• Child
• Codon, Nonsense
• Female
• Humans
• Hypobetalipoproteinemia, Familial, Apolipoprotein B (blood, drug therapy, genetics)
• Mutation
• Mutation, Missense
• Vitamin A (therapeutic use)
• Vitamin E (therapeutic use)