title: Compound heterozygosity in DJ-1 gene non-coding portion related to parkinsonism.
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.
authors: Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
authors: Patrizia
authors: P
authors: Tarantino
authors: Donatella
authors: D
authors: Civitelli
authors: Ferdinanda
authors: F
authors: Annesi
authors: Elvira V
authors: EV
authors: De Marco
authors: Francesca E
authors: FE
authors: Rocca
authors: Pierfrancesco
authors: P
authors: Pugliese
authors: Giuseppe
authors: G
authors: Nicoletti
authors: Sara
authors: S
authors: Carrideo
authors: Giovanni
authors: G
authors: Provenzano
authors: Grazia
authors: G
authors: Annesi
authors: Aldo
authors: A
authors: Quattrone
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D015513:Oncogene Proteins / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D000071617:Protein Deglycase DJ-1
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D015513:Oncogene Proteins; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1