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PMID: 15862897 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism.

Neuroscience letters ·Vol. 380 ·No. 3 ·2005-06-03 ·Pages 257-9

Mata IF, Alvarez V, Coto E, Blazquez M, Guisasola LM, Salvador C, Kachergus JM, Lincoln SJ, Farrer M

Abstract

Autosomal recessive mutations in the parkin gene are the predominant cause of familial, early-onset parkinsonism; missense mutations involving one or a few nucleotides, exonic deletions and duplications have been described. Here we report a family with two affected brothers. Direct sequencing of parkin did not detect mutations, but semi-quantitative analysis identified a novel exonic rearrangement of exons 2-4. Both patients were homozygous for unique genomic triplications of the parkin gene.

MeSH Terms

Age of Onset Aged Brain Chemistry/genetics Chromosomes, Human, Pair 6/genetics DNA Mutational Analysis Exons/genetics Gene Dosage Genetic Predisposition to Disease/genetics Genetic Testing Genome Homozygote Humans Male Middle Aged Mutation/genetics Parkinsonian Disorders/genetics,metabolism,physiopathology Ubiquitin-Protein Ligases/genetics

Chemicals

Ubiquitin-Protein Ligases parkin protein

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Mata Ignacio F

Laboratory of Neurogenetics, Department of Neuroscience, Birdsall Bldg., Room 206, Mayo Clinic, Jacksonville, FL 32224, USA.

Alvarez Victoria

Coto Eliecer

Blazquez Marta

Guisasola Luis M

Salvador Carlos

Kachergus Jennifer M

Lincoln Sarah J

Farrer Matthew

Article Info

Journal

Neuroscience letters

Abbr.

Neurosci Lett

ISSN

0304-3940

DOI

10.1016/j.neulet.2005.01.051

Published

2005-06-03

Epub

2005-00-08

Pages

257-9

Language

English

Region

Ireland

NLM ID

7600130

Subset

External Links

PubMed source DOI: 10.1016/j.neulet.2005.01.051 View journal details

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Homozygous partial genomic triplication of the parkin gene in early-onset parkinsonism.

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