Lack of mutations in DJ-1 in a cohort of Taiwanese ethnic Chinese with early-onset parkinsonism

Movement Disorders : Official Journal of the Movement Disorder Society
Paul J LockhartMatthew J Farrer

Abstract

Recently, mutations in DJ-1 (PARK7) were described as a novel cause of early-onset parkinsonism. We analysed the DJ-1 gene in a cohort of patients originating from Taiwan with early-onset Parkinson's disease; 41 subjects were clinically and genetically examined. These patients were evaluated previously for the presence of parkin mutations (PARK2) and were found to be negative. The entire DJ-1 open-reading frame was amplified from cDNA, analysed for size alterations indicative of mutations affecting splice motifs, and sequenced to identify coding variants. In addition, we developed quantitative polymerase chain reaction assays to examine the genomic copy number of DJ-1 exons. No potential splice site mutations, coding sequence alterations, or exon deletion/duplications were detected. Our results and previous studies suggest that alterations to DJ-1 are not a common cause of early-onset Parkinson's disease and other causes, genetic and/or environmental, remain to be identified.

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Citations

Dec 20, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nathan Pankratz, Tatiana Foroud
Feb 7, 2009·Parkinsonism & Related Disorders·Juliet M TaylorPaul J Lockhart
Aug 30, 2008·Parkinsonism & Related Disorders·Patrizia TarantinoAldo Quattrone
Mar 22, 2007·Biochemical and Biophysical Research Communications·Leo ChenJing Zhang
Jul 16, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Lorraine N ClarkKaren Marder
Nov 14, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Ming-Jen LeeRuey-Meei Wu
Mar 29, 2014·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Nancy Monroy-JaramilloMarisol López-López
Feb 27, 2010·Movement Disorders : Official Journal of the Movement Disorder Society·Christian WiderZbigniew K Wszolek
Sep 26, 2006·Neuroscience Letters·Nathan PankratzUNKNOWN Parkinson Study Group - PROGENI Investigators
Nov 5, 2016·Parkinsonism & Related Disorders·Masoom M AbbasUday B Muthane
Apr 19, 2007·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Chin-Hsien LinRuey-Meei Wu

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