title: Molecular diagnosis of lecithin: cholesterol acyltransferase deficiency in a presymptomatic proband.
abstract: We report the molecular diagnosis of a lecithin : cholesterol acyltransferase deficiency in a 12-year old proband with a high-density lipoprotein deficiency. The increased percentage of free cholesterol in plasma and high-density lipoprotein indicated an inherited lecithin : cholesterol acyltransferase deficiency as the underlying cause. This diagnosis was confirmed by a low plasma lecithin : cholesterol acyltransferase activity and a combination of genetic analyses which demonstrated compound heterozygosity for two mutations in the lecithin : cholesterol acyltransferase gene of the proband. One was a previously unreported 2 bp deletion leading to a stop signal in codon 77 and the other a point mutation causing Arg 135-->Gln transition. To our knowledge, this is the first diagnosis of lecithin : cholesterol acyltransferase deficiency in a pre-symptomatic patient. Whether the proband will develop signs of complete lecithin : cholesterol acyltransferase deficiency or the milder form (Fish Eye Disease) is uncertain, although the former possibility is more likely. The risk of premature atherosclerosis conferred by lecithin : cholesterol acyltransferase deficiency is not well established. The proband will need to be carefully monitored in the future.
authors.affiliation: Servei de Bioquímica, Institut de Recerca, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: S
authors.initials: S
authors.lastname: Cirera
authors.forename: J
authors.initials: J
authors.lastname: Julve
authors.forename: I
authors.initials: I
authors.lastname: Ferrer
authors.forename: C
authors.initials: C
authors.lastname: Mainou
authors.forename: R
authors.initials: R
authors.lastname: Bonet
authors.forename: J M
authors.initials: JM
authors.lastname: Martin-Campos
authors.forename: F
authors.initials: F
authors.lastname: González-Sastre
authors.forename: F
authors.initials: F
authors.lastname: Blanco-Vaca
mesh_terms: D002648:Child; D002784:Cholesterol / Q000097:blood; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007863:Lecithin Cholesterol Acyltransferase Deficiency / Q000097:blood* / Q000235:genetics; D008055:Lipids / Q000097:blood; D008075:Lipoproteins, HDL / Q000097:blood; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D008055:Lipids; D008075:Lipoproteins, HDL; D002784:Cholesterol