Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum.

Roberta Marongiu, Francesco Brancati, Angelo Antonini, Tamara Ialongo, Caterina Ceccarini, Oronzo Scarciolla, Anna Capalbo, Riccardo Benti, Gianni Pezzoli, Bruno Dallapiccola, Stefano Goldwurm, Enza Maria Valente

Research output: Contribution to journalArticlepeer-review

Abstract

Autosomal recessive parkinsonism is a genetic condition closely resembling Parkinson disease, the only distinguishing features being an earlier age at onset and a slower disease progression. Three causative genes have been identified so far. While exon rearrangements are frequently encountered in the Parkin gene, most PINK1 mutations are represented by single nucleotide changes. We report a sporadic parkinsonian patient carrying a deletion of the entire PINK1 gene and a splice site mutation (g.15445_15467del23) which produces several aberrant mRNAs. This report expands the genotypic spectrum of PINK1 mutations, with relevant implications for molecular analysis of this gene. (c) 2006 Wiley-Liss, Inc.

Original languageEnglish
Pages (from-to)98
Number of pages1
JournalHuman Mutation
Volume28
Issue number1
Publication statusPublished - Jan 2007

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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