A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile Parkinsonism in a population from North West Colombia

Nicolas Pineda-Trujillo, Luis Carvajal-Carmona, Omar Buriticá, Sonia Moreno, Carlos Uribe, David Pineda, Maria Toro, Francisco García, William Arias, Gabriel Bedoya, Francisco Lopera, Andres Ruiz-Linares

Research output: Contribution to journalArticle

44 Scopus citations

Abstract

We report the molecular characterization of three multiplex families and a sporadic case of juvenile Parkinsonism identified in the province of Antioquia (Colombia). Linkage and haplotype analysis using markers in 6q25.2-27 indicated that Parkinsonism in the pedigrees is linked to the parkin gene (maximum LOD-score of 3.85) but that they carry two different mutant haplotypes. Sequence analysis revealed a novel G to A transition in exon 6 at position 736 (G736A) of parkin. This change results in a non-conservative cysteine for tyrosine substitution. All affected individuals from two families were homozygous for this mutation, which was not detected in 100 normal controls. Patients from the family carrying the second haplotype and the sporadic case were homozygous for a GT insertion in exon 3. This mutation has been previously identified in French families with juvenile Parkinsonism. The concomitant presence of founder effects and allelic heterogeneity in Antioquia might relate to the founding admixture at the origin of this population.

Original languageEnglish (US)
Pages (from-to)87-90
Number of pages4
JournalNeuroscience Letters
Volume298
Issue number2
DOIs
StatePublished - Feb 2 2001
Externally publishedYes

Keywords

  • Founder effect
  • Genetic isolates
  • Parkin
  • Parkinsonism

ASJC Scopus subject areas

  • Neuroscience(all)

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