A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children.

A. Tessa, A. Simonati, A. Tavoni, E. Bertini, F. M. Santorelli

Research output: Contribution to journalArticle

Abstract

We identified a novel nonsense CLN2 mutation (Q509X) in three Italian children with classical late-infantile neuronal ceroid lipofuscinosis (LINCL) from two unrelated families. The mutation introduced a premature stop codon in exon 12 of the CLN2 gene, resulting in a protein lacking the last 54 residues. Haplotype analysis suggested independent origin of the mutation in our families. The protein truncation test was employed to verify the functional consequences of the novel Q509X mutation. In Patient 1, the mutant alleles were transcribed but translated in a shorted peptide suggesting that the Q509X mutation is likely to interfere with CLN2p function. While expanding the list of genetic variants in LINCL, our findings represent the first molecular characterization of LINCL patients in South Europe.

Original languageEnglish
Pages (from-to)577
Number of pages1
JournalHuman Mutation
Volume15
Issue number6
Publication statusPublished - Jun 2000

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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