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

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    21 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

    Keywords

    • apolipoprotein B
    • family studies
    • hypobetalipoproteinaemia

    ASJC Scopus subject areas

    • Internal Medicine

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  • Cite this

    FAZIO, S., SIDOLI, A., VIVENZIO, A., MAIETTA, A., GIAMPAOLI, S., MENOTTI, A., ANTONINI, R., URBINATI, G., BARALLE, F. E., & RICCI, G. (1991). A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene. Journal of Internal Medicine, 229(1), 41-47. https://doi.org/10.1111/j.1365-2796.1991.tb00304.x