New mutations in APOB100 involved in familial hypobetalipoproteinemia.
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.
Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, DK-5000 Odense C, Denmark. Klaus.brusgaard@ouh.fyns-amt.dk
Klaus
K
Brusgaard
Lars
L
Kjaersgaard
Anne-Birthe Bo
AB
Hansen
Steffen
S
Husby
D019943:Amino Acid Substitution; D053299:Apolipoprotein B-100 / Q000097:blood / Q000172:deficiency / Q000235:genetics*; D002648:Child; D018389:Codon, Nonsense; D005260:Female; D006801:Humans; D052476:Hypobetalipoproteinemia, Familial, Apolipoprotein B / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense; D014801:Vitamin A / Q000627:therapeutic use; D014810:Vitamin E / Q000627:therapeutic use
D053299:Apolipoprotein B-100; D018389:Codon, Nonsense; D014801:Vitamin A; D014810:Vitamin E