Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism

Parkinsonism & Related Disorders
Patrizia TarantinoA Quattrone

Abstract

In this study we analysed the DJ-1 gene in 40 sporadic patients with early onset Parkinson's disease and 100 appropriate controls, originated from southern Italy. We identified a single patient with age at onset of 38 years carrying two previously undescribed heterozygous mutations, both located in non-coding regions. The first mutation was a nucleotide change in the promoter region of the gene (g.159C>G) and the second one was an insertion in the intron 4 splice site (IVS4+3insA). In the same patient, genomic rearrangements were excluded. No DJ-1 mutations were found in the remaining parkinsonian patients. Our results support the growing importance of mutations in non-coding portion of human genome, and confirm that alterations in DJ-1 are a cause, even if rare, of early-onset Parkinson's disease.

References

Nov 26, 2003·Neurology·P IbáñezUNKNOWN French Parkinson's Disease Genetics Study Group
Sep 17, 2004·Movement Disorders : Official Journal of the Movement Disorder Society·Paul J LockhartMatthew J Farrer
Oct 27, 2004·Cell and Tissue Research·Patrick M Abou-SleimanNicholas W Wood
Sep 26, 2006·Neuroscience Letters·Nathan PankratzUNKNOWN Parkinson Study Group - PROGENI Investigators
Mar 25, 2008·American Journal of Human Genetics·Corinne LautierRobert J Smith

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Citations

Dec 30, 2011·Molecular Neurobiology·Ilse S PienaarDavid Dexter
Mar 17, 2010·Parkinsonism & Related Disorders·F SironiS Goldwurm
Dec 9, 2009·Clinical Genetics·E V De MarcoA Quattrone
May 20, 2015·Neurogenetics·Valentina La CognataSebastiano Cavallaro
Nov 2, 2013·Neuroscience Letters·Francesca SironiStefano Goldwurm
Oct 21, 2011·Physiological Reviews·Olga CortiAlexis Brice
Sep 6, 2019·Journal of Clinical Medicine·Mariaelena Repici, Flaviano Giorgini
Apr 10, 2014·Movement Disorders Clinical Practice·Jose M BrasSusanne A Schneider

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