A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene

S. FAZIO, A. SIDOLI, A. VIVENZIO, A. MAIETTA, S. GIAMPAOLI, A. MENOTTI, R. ANTONINI, G. URBINATI, F. E. BARALLE, G. RICCI

Research output: Contribution to journalArticlepeer-review

25 Scopus citations

Abstract

Abstract. Familial hypobetalipoproteinaemia (FHBL) is a dominant disorder of lipoprotein metabolism characterized by levels of apolipoprotein B‐carrying lipoproteins (VLDL, IDL and LDL) which are 50% of the normal levels in the heterozygotes and almost absent in the homozygotes. Several reports have recently shown that the underlying defect in FHBL involves different mutations in the apo B gene which lead to reduced levels of apo B mRNA or to the production of truncated forms of apo B having either a lower synthetic rate or a higher catabolic rate than normal apo B. We here present a three‐generation family with several FHBL members in which the linkage analysis shows absence of co‐segregation between apo B gene alleles and the hypocholesterolaemic phenotype. We conclude that a dominantly transmitted mutation in a gene other than that for apo B is responsible for the low plasma cholesterol levels. 1991 Blackwell Publishing Ltd

Original languageEnglish (US)
Pages (from-to)41-47
Number of pages7
JournalJournal of Internal Medicine
Volume229
Issue number1
DOIs
StatePublished - Jan 1991
Externally publishedYes

Keywords

  • apolipoprotein B
  • family studies
  • hypobetalipoproteinaemia

ASJC Scopus subject areas

  • Internal Medicine

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