First-trimester diagnosis of late-infantile neuronal ceroid lipofuscinosis (LINCL) by tripeptidyl peptidase I assay and CLN2 mutation analysis

Ron Maymon, David Schneider, Julius Hegesh, Arie Herman, Zwi Weinraub, Reuven Achiron

Research output: Contribution to journalArticlepeer-review

Abstract

Late-infantile neuronal ceroid lipofuscinosis (LINCL) is a progressive neurodegenerative disorder caused by the deficiency of lysosomal tripeptidyl peptidase I (TPP-I) encoded by the CLN2 gene. We report the first case of early prenatal diagnosis of LINCL by combined enzyme and mutation analysis. TPP-I activity in chorionic villi (CV) was less than 2% of the mean normal control level and g.1946A >G and g.3670C >T mutations were demonstrated, as in the two previously affected children. After termination of pregnancy, TPP-I deficiency was confirmed in cultured CV cells and in the fetal skin fibroblasts. The expression of unequivocal TPP-I deficiency in CV demonstrates that enzyme assay is a reliable option for prenatal diagnosis of LINCL.

Original languageEnglish
Pages (from-to)99-101
Number of pages3
JournalPrenatal Diagnosis
Volume21
Issue number2
DOIs
StatePublished - 2001
Externally publishedYes

Keywords

  • CLN2 mutation analysis
  • First-trimester diagnosis
  • Late-infantile neuronal ceroid lipofuscinosis
  • Tripeptidyl peptidase I

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