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.
|Publication status||Published - 22 Sep 1998|
- Fish eye disease
- High-density lipoprotein (HDL)
- Lecithin: cholesterol acyltransferase
- Lecithin: cholesterol acyltransferase deficiency
Cirera, S., Julve, J., Ferrer, I., Mainou, C., Bonet, R., Martín-Campos, J. M., González-Sastre, F., & Blanco-Vaca, F. (1998). Molecular diagnosis of lecithin :Cholesterol acyltransferase deficiency in a presymptomatic proband. Default journal, 36, 443-448. https://doi.org/10.1515/CCLM.1998.074