使用PPT酶测定法和CLN1基因突变分析对婴儿神经元蜡样脂褐质沉积症（INCL）进行孕早期诊断。

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

作者信息

de Vries B B, Kleijer W J, Keulemans J L, Voznyi Y V, Franken P F, Eurlings M C, Galjaard R J, Losekoot M, Catsman-Berrevoets C E, Breuning M H, Taschner P E, van Diggelen O P

机构信息

Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.

出版信息

Prenat Diagn. 1999 Jun;19(6):559-62.

PMID:10416973

Abstract

Infantile neuronal ceroid lipofuscinosis (INCL) is a progressive neurodegenerative disorder in childhood which is caused by the deficiency of the lysosomal palmitoyl-protein thioesterase (PPT) encoded by the CLN1 gene. In a pregnancy 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 and homozygosity for the C451T mutation in CLN1 was found. The pregnancy was terminated and the PPT deficiency was confirmed in cultured CV cells as well as in the cultured fetal skin fibroblasts. This report shows the first early prenatal diagnosis of INCL performed by fluorometric enzyme analysis and mutation analysis of the CLN1 gene.

摘要

婴儿神经元蜡样脂褐质沉积症（INCL）是一种儿童期进行性神经退行性疾病，由CLN1基因编码的溶酶体棕榈酰蛋白硫酯酶（PPT）缺乏引起。在一个有INCL风险的妊娠中，使用一种新型荧光PPT酶测定法结合CLN1基因的突变分析对绒毛膜绒毛（CV）进行了研究。发现绒毛膜绒毛中的PPT活性缺乏，并且发现CLN1基因中C451T突变的纯合性。终止妊娠，并且在培养的CV细胞以及培养的胎儿皮肤成纤维细胞中证实了PPT缺乏。本报告显示了首次通过荧光酶分析和CLN1基因的突变分析对INCL进行的早期产前诊断。