Identification of the novel D297fsX318 PINK1 mutation and phenotype variation in a family with early-onset Parkinson's disease

Parkinsonism Relat Disord. 2008 Aug;14(6):509-12. doi: 10.1016/j.parkreldis.2007.10.014. Epub 2008 Mar 7.

Abstract

Herein we first describe a novel homozygous single nucleotide deletion in PINK1 exon 4 (889delG) which results in a loss of kinase domain on the PINK1 protein (D297fsX318). This mutation was identified in two brothers with early-onset Parkinson disease (EOPD) from a Sicilian consanguineous family. Of note, while one of the two patients developed mental deterioration and psychiatric problems, the other showed no cognitive decline. The present study supports the view that PINK1 is a pathogenic gene in some Italian families with EOPD and contributes to define the PINK1-associated phenotype.

Publication types

  • Case Reports

MeSH terms

  • Age of Onset
  • Aged
  • Amino Acid Sequence
  • Antiparkinson Agents / therapeutic use
  • Cognition Disorders / etiology
  • Cognition Disorders / psychology
  • Exons / genetics
  • Gene Deletion
  • Genotype
  • Humans
  • Levodopa / therapeutic use
  • Male
  • Molecular Sequence Data
  • Mutation
  • Parkinson Disease / genetics*
  • Parkinson Disease / psychology
  • Pedigree
  • Phenotype
  • Protein Kinases / genetics*

Substances

  • Antiparkinson Agents
  • Levodopa
  • Protein Kinases
  • PTEN-induced putative kinase