Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia

Pin Yue, Bo Yuan, Daniela S. Gerhard, Rosalind J. Neuman, William L. Isley, William Harris, Gustav Schonfeld

Research output: Contribution to journalArticle

14 Citations (Scopus)

Abstract

Familial hypobetalipoproteinemia (FHBL) is a genetic disorder characterized by low levels of apoB-100 and LDL cholesterol. Truncation-producing mutations of apoB (chromosome 2) are among several potential causes of FHBL in patients. Ten new families with FHBL linked to chromosome 2 were identified. In Family 8, a 4432delT in exon 26 produces a frame-shift and a premature stop codon predicted to produce a truncated apoB-30.9. Even though this truncation is just 10 amino acid shorter than the well-documented apoB-31, which is readily detectable in plasma, apoB-30.9 is undetectable. Most truncations shorter than apoB-30 are not detectable in plasma. In Family 34, an acceptor splicing mutation at position -1 of exon 14 changes the acceptor splice site AG to AA. Two families (Family 50 and 52) had mutations (apoB-9 and apoB-29) reported previously. In Family 98, a novel point mutation in exon 26 (11163T>G) causes a premature stop codon, and produces a truncated apoB-80.5 readily detectable in plasma. Sequencing of the ApoB gene in families 1, 5, 18, 58, and 59 did not reveal mutations.

Original languageEnglish (US)
Pages (from-to)110-116
Number of pages7
JournalHuman Mutation
Volume20
Issue number2
DOIs
StatePublished - 2002
Externally publishedYes

Fingerprint

Hypobetalipoproteinemias
Apolipoproteins B
Mutation
Exons
Chromosomes, Human, Pair 2
Nonsense Codon
Apolipoprotein B-100
Familial Hypobetalipoproteinemia
RNA Splice Sites
Inborn Genetic Diseases
Point Mutation
LDL Cholesterol

Keywords

  • APOB
  • Apolipoprotein B
  • Familial hypobetalipoproteinemia
  • FHBL
  • Truncation

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Yue, P., Yuan, B., Gerhard, D. S., Neuman, R. J., Isley, W. L., Harris, W., & Schonfeld, G. (2002). Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia. Human Mutation, 20(2), 110-116. https://doi.org/10.1002/humu.10101

Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia. / Yue, Pin; Yuan, Bo; Gerhard, Daniela S.; Neuman, Rosalind J.; Isley, William L.; Harris, William; Schonfeld, Gustav.

In: Human Mutation, Vol. 20, No. 2, 2002, p. 110-116.

Research output: Contribution to journalArticle

Yue, P, Yuan, B, Gerhard, DS, Neuman, RJ, Isley, WL, Harris, W & Schonfeld, G 2002, 'Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia', Human Mutation, vol. 20, no. 2, pp. 110-116. https://doi.org/10.1002/humu.10101
Yue, Pin ; Yuan, Bo ; Gerhard, Daniela S. ; Neuman, Rosalind J. ; Isley, William L. ; Harris, William ; Schonfeld, Gustav. / Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia. In: Human Mutation. 2002 ; Vol. 20, No. 2. pp. 110-116.
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