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A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene
Author(s) -
FAZIO S.,
SIDOLI A.,
VIVENZIO A.,
MAIETTA A.,
GIAMPAOLI S.,
MENOTTI A.,
ANTONINI R.,
URBINATI G.,
BARALLE F. E.,
RICCI G.
Publication year - 1991
Publication title -
journal of internal medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.625
H-Index - 160
eISSN - 1365-2796
pISSN - 0954-6820
DOI - 10.1111/j.1365-2796.1991.tb00304.x
Subject(s) - apolipoprotein b , mutation , allele , genetics , heterozygote advantage , very low density lipoprotein , gene , apolipoprotein c2 , genetic linkage , catabolism , lipoprotein , medicine , endocrinology , biology , cholesterol , metabolism
. 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.