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Title: Prenatal diagnosis of homozygous familial hypercholesterolaemia. Expression of a genetic receptor disease in utero
Authors: Brown, M S ×
Kovanen, P T
Goldstein, J L
Eeckels, Roger
Vandenberghe, K
Van den Berghe, Herman
Fryns, Jean-Pierre
Cassiman, Jean-Jacques #
Issue Date: May-1978
Series Title: Lancet. vol:1 issue:8063 pages:526-9
Abstract: Cultured amniotic-fluid cells from a fetus at risk for homozygous familial hypercholesterolaemia (F.H.) almost completely lacked cell-surface receptors for plasma low-density lipoprotein (L.D.L.), as evidenced by direct measurement of binding, uptake, and degradation of 125I-L.D.L. Functional consequences of L.D.L. binding to the receptor--i.e., suppression of 3-hydroxy-3-methylglutaryl coenzyme A reductase and stimulation of cholesterol esterification--were proportionately reduced when compared with results in cultured amniotic cells from two control fetuses. On the basis of these findings, homozygous F.H. was diagnosed and the pregnancy was terminated at the 20th week. The diagnosis of homozygous F.H. was confirmed by a serum-cholesterol of the aborted fetus of 279 mg/dl, a value 9 times the mean of four control fetuses of similar gestational age. More than 80% of the serum-cholesterol of the affected fetus was contained within L.D.L. Prenatal diagnosis of homozygous F.H. now seems practical; moreover, the finding of a raised serum-L.D.L. in the affected fetus indicates that the L.D.L. receptor is normally functional as early as the 20th week of fetal life.
ISSN: 0140-6736
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Human Mutations and Polymorphisms Section (-)
Forensic Biomedical Sciences
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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