Prenatal testing for late infantile neuronal ceroid lipofuscinosis.
Classic late infantile neuronal ceroid lipofuscinosis (LINCL) is a neurodegenerative disease in which autofluorescent "curvilinear" storage bodies accumulate in tissues from affected patients. Recently, the LINCL gene (CLN2) has been found to code for a pepstatin-insensitive lysosomal protease whose activity is deficient in LINCL specimens. We report the first 2 cases of successful prenatal testing for LINCL by using DNA and enzyme-based methods on amniocytes, and describe a new private mutation in one of the families analyzed. These approaches allow definitive prenatal diagnosis and represent a significant improvement over previous pathological methods.
Berry-Kravis
E
E
Department of Pediatrics, Rush-Presbyterian-St Luke's Medical Center, Chicago, IL 60612, USA.
Sleat
D E
DE
Sohar
I
I
Meyer
P
P
Donnelly
R
R
Lobel
P
P
D000328:Adult; D000626:Aminopeptidases; D000649:Amniocentesis; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D010450:Endopeptidases; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000235:genetics; D010447:Peptide Hydrolases / Q000235:genetics; D011296:Prenatal Diagnosis; D057057:Serine Proteases; D000091346:Tripeptidyl-Peptidase 1
D000091346:Tripeptidyl-Peptidase 1; D004247:DNA; D010450:Endopeptidases; D010447:Peptide Hydrolases; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human