Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.
Identifieur interne : 003566 ( PubMed/Checkpoint ); précédent : 003565; suivant : 003567Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.
Auteurs : Lorraine N. Clark [États-Unis] ; Shehla Afridi ; Helen Mejia-Santana ; Juliette Harris ; Elan D. Louis ; Lucien J. Cote ; Howard Andrews ; Andrew Singleton ; Fabienne Wavrant De-Vrieze ; John Hardy ; Richard Mayeux ; Stanley Fahn ; Cheryl Waters ; Blair Ford ; Steven Frucht ; Ruth Ottman ; Karen MarderSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2004.
English descriptors
- KwdEn :
- Adult, Aging (physiology), Cohort Studies, DNA Primers (genetics), Demography, Exons (genetics), Female, Gene Frequency (genetics), Humans, Intracellular Signaling Peptides and Proteins, Male, Middle Aged, Mutation, Missense (genetics), Oncogene Proteins (genetics), Parkinson Disease (epidemiology), Parkinson Disease (ethnology), Parkinson Disease (genetics), Point Mutation (genetics), Polymerase Chain Reaction, Polymorphism, Genetic (genetics).
- MESH :
- chemical , genetics : DNA Primers, Oncogene Proteins.
- epidemiology : Parkinson Disease.
- ethnology : Parkinson Disease.
- genetics : Exons, Gene Frequency, Mutation, Missense, Parkinson Disease, Point Mutation, Polymorphism, Genetic.
- physiology : Aging.
- Adult, Cohort Studies, Demography, Female, Humans, Intracellular Signaling Peptides and Proteins, Male, Middle Aged, Polymerase Chain Reaction.
Abstract
The frequency and relative contribution of DJ-1 mutations in early-onset Parkinson's disease (EOPD) is currently unknown. We analyzed a cohort of 89 EOPD patients (mean age at onset of PD +/- SD, 41.5 +/- 7.2 years), ascertained independent of family history, who participated in a study of the genetic epidemiology of PD. This study includes sequence analysis of the DJ-1 gene in addition to assaying the 14,082-bp deletion spanning exons 1 to 5, previously identified in a Dutch kindred, in 89 EOPD cases. A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. We identified additional sequence variation in the DJ-1 gene, including a polymorphism in the coding region in exon 5 (R98Q), three polymorphisms in the 5' untranslated region (exon 1A/1B), and two polymorphisms in intronic regions (IVS1 and IVS5). Mutations in the DJ-1 gene are rare in EOPD in both sporadic and familial cases.
DOI: 10.1002/mds.20131
PubMed: 15254937
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:15254937Le document en format XML
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<front><div type="abstract" xml:lang="en">The frequency and relative contribution of DJ-1 mutations in early-onset Parkinson's disease (EOPD) is currently unknown. We analyzed a cohort of 89 EOPD patients (mean age at onset of PD +/- SD, 41.5 +/- 7.2 years), ascertained independent of family history, who participated in a study of the genetic epidemiology of PD. This study includes sequence analysis of the DJ-1 gene in addition to assaying the 14,082-bp deletion spanning exons 1 to 5, previously identified in a Dutch kindred, in 89 EOPD cases. A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. We identified additional sequence variation in the DJ-1 gene, including a polymorphism in the coding region in exon 5 (R98Q), three polymorphisms in the 5' untranslated region (exon 1A/1B), and two polymorphisms in intronic regions (IVS1 and IVS5). Mutations in the DJ-1 gene are rare in EOPD in both sporadic and familial cases.</div>
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<Abstract><AbstractText>The frequency and relative contribution of DJ-1 mutations in early-onset Parkinson's disease (EOPD) is currently unknown. We analyzed a cohort of 89 EOPD patients (mean age at onset of PD +/- SD, 41.5 +/- 7.2 years), ascertained independent of family history, who participated in a study of the genetic epidemiology of PD. This study includes sequence analysis of the DJ-1 gene in addition to assaying the 14,082-bp deletion spanning exons 1 to 5, previously identified in a Dutch kindred, in 89 EOPD cases. A heterozygous missense mutation in exon 5 (A104T) was identified in an EOPD case of Asian ethnicity; this sequence variant was absent in 308 control chromosomes. We identified additional sequence variation in the DJ-1 gene, including a polymorphism in the coding region in exon 5 (R98Q), three polymorphisms in the 5' untranslated region (exon 1A/1B), and two polymorphisms in intronic regions (IVS1 and IVS5). Mutations in the DJ-1 gene are rare in EOPD in both sporadic and familial cases.</AbstractText>
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<name sortKey="Mayeux, Richard" sort="Mayeux, Richard" uniqKey="Mayeux R" first="Richard" last="Mayeux">Richard Mayeux</name>
<name sortKey="Mejia Santana, Helen" sort="Mejia Santana, Helen" uniqKey="Mejia Santana H" first="Helen" last="Mejia-Santana">Helen Mejia-Santana</name>
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<name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<name sortKey="Waters, Cheryl" sort="Waters, Cheryl" uniqKey="Waters C" first="Cheryl" last="Waters">Cheryl Waters</name>
<name sortKey="Wavrant De Vrieze, Fabienne" sort="Wavrant De Vrieze, Fabienne" uniqKey="Wavrant De Vrieze F" first="Fabienne" last="Wavrant De-Vrieze">Fabienne Wavrant De-Vrieze</name>
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<country name="États-Unis"><region name="État de New York"><name sortKey="Clark, Lorraine N" sort="Clark, Lorraine N" uniqKey="Clark L" first="Lorraine N" last="Clark">Lorraine N. Clark</name>
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