First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis

Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive neurodegen erative disorder in childhood which is caused by the deficiency of the lyso somal palmitoyl-protein thioesterase (PPT):encoded by the CLN1 gene. In a p regnancy at risk for INCL, chorionic villi (CV) were studied using a novel fluorometric PPT enzyme assay in combination with mutation-analysis of the CLN1 gene. The PPT activity in chorionic villi was found to be deficient an d homozygosity for the C451T mutation in CLN1 was found. The pregnancy was terminated and the PPT deficiency was confirmed in cultured CV cells as wel l as in the cultured fetal skin fibroblasts. This report shows the first ea rly prenatal diagnosis of INCL performed by fluorometric enzyme analysis an d mutation analysis of the CLN1 gene. Copyright (C) 1999 John Wiley & Sons, Ltd.