New mutations in APOB100 involved in familial hypobetalipoproteinemia

J Clin Lipidol. 2010 May-Jun;4(3):181-4. doi: 10.1016/j.jacl.2010.02.009. Epub 2010 Mar 2.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

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