Fazio S, Sidoli A, Vivenzio A, Maietta A, Giampaoli S, Menotti A, Antonini R, Urbinati G, Baralle F E, Ricci G
Instituto di Terapia Medica Sistematica, Universita La Sapienza, Rome, Italy.
J Intern Med. 1991 Jan;229(1):41-7. doi: 10.1111/j.1365-2796.1991.tb00304.x.
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.
