LECITHIN-CHOLESTEROL ACYLTRANSFERASE DEFICIENCY - IDENTIFICATION OF ACAUSATIVE GENE MUTATION AND A CO-INHERITED PROTEIN POLYMORPHISM

We have recreated and expressed two known natural mutations within the LCAT gene which were reported on both alleles in a single case of fam ilial LCAT deficiency. We demonstrate that the Ala-93 --> Thr mutation is responsible for the biochemical defect while the Arg-158 --> Cys m utation is a co-inherited natural polymorphism of LCAT which results i n normal enzyme function.