Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis

Maria Bonsignore, Alessandra Tessa, Gabriella Di Rosa, Fiorella Piemonte, Carlo Dionisi-Vici, Alessandro Simonati, Filippo Calamoneri, Gaetano Tortorella, Filippo M. Santorelli

Research output: Contribution to journalArticle

Abstract

We detected a novel CLN1 mutation (c.125-15t>g) in two Italian siblings. The clinical phenotype is that of a variant late-infantile neuronal ceroid lipofuscinosis and consisted of early-onset visual loss, psychomotor deterioration, and seizures. Ultrastructurally, granular osmiophilic deposits were found in skin biopsy of both patients. The novel mutation occurs in the acceptor sequences for splicing and leads to skipping of multiple exons. This predicts a protein lacking part or all of the active site of the enzyme and the palmitate-binding pocket. Consequently, biochemical activity of the palmitoyl protein thioesterase-1 enzyme was drastically reduced. The new mutation was not identified in a large set of ethnically matched control chromosomes. Our findings support the notion that CLN1 patients are not rare in Southern Europe and facilitate DNA-based mutation and carrier testing in this family.

Original languageEnglish
Pages (from-to)154-156
Number of pages3
JournalEuropean Journal of Paediatric Neurology
Volume10
Issue number3
DOIs
Publication statusPublished - 2006

Keywords

  • CLN1
  • GRODs
  • LINCL
  • Novel mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neurology

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