Molecular diagnosis of lecithin :Cholesterol acyltransferase deficiency in a presymptomatic proband

Susanna Cirera, Josep Julve, Immaculada Ferrer, Carles Mainou, Rosa Bonet, Jesús M. Martín-Campos, Francesc González-Sastre, Francisco Blanco-Vaca

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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.
Original languageEnglish
Pages (from-to)443-448
JournalClinical Chemistry and Laboratory Medicine
Publication statusPublished - 22 Sep 1998


  • Fish eye disease
  • High-density lipoprotein (HDL)
  • Lecithin: cholesterol acyltransferase
  • Lecithin: cholesterol acyltransferase deficiency


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