Article
Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met).
The Journal of clinical investigation - 1 Feb 1992
Klein H G, Lohse P, Pritchard P H, Bojanovski D, Schmidt H, Brewer H B
Abstract excerpt
We have elucidated the genetic defect in a 66-yr-old patient with fish eye syndrome (FES) presenting with severe corneal opacities and hypoalphalipoproteinemia. The patient's plasma concentration of high density lipoprotein (HDL) cholesterol was reduced at 7.7 mg/dl (35.1-65.3 mg/dl in controls) and the HDL cholesteryl ester content was 31% (60-80% in controls); however, total plasma cholesteryl esters were...
Topics
- Aged
- Alleles
- Apolipoproteins
- Base Sequence
- Corneal Opacity
- DNA
- Female
- Humans
- Hypolipoproteinemias
- Lipid Metabolism, Inborn Errors