Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease.
Identifieur interne : 000202 ( PubMed/Checkpoint ); précédent : 000201; suivant : 000203Mutation analysis of CHCHD2 in Canadian patients with familial Parkinson's disease.
Auteurs : Ming Zhang [Canada] ; Zhengrui Xi [Canada] ; Shilun Fang [Canada] ; Mahdi Ghani [Canada] ; Christine Sato [Canada] ; Danielle Moreno [Canada] ; Yan Liang [Canada] ; Anthony E. Lang [Canada] ; Ekaterina Rogaeva [Canada]Source :
- Neurobiology of aging [ 1558-1497 ] ; 2016.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Mitochondrial Proteins, Transcription Factors.
- genetics : Exons, Parkinson Disease.
- Canada, DNA Mutational Analysis, Genetic Association Studies, Humans, Mutation.
Abstract
Recently, several CHCHD2 mutations were reported to be associated with autosomal dominant Parkinson's disease (PD) in a Japanese population. However, an association between CHCHD2 and PD was not observed in 2 Caucasian data sets. The present study searched for CHCHD2 coding variants in Canadian PD patients. Sanger sequencing of all CHCHD2 exons revealed no coding mutations in 155 familial cases. Moreover, 3 coding CHCHD2 polymorphisms available on the NeuroX array (Pro2Leu, Pro14Ser, and Ile118Met) were homozygous for the major allele in an additional 85 PD patients. Our study suggests that CHCHD2 mutations may not account for PD in Canadian patients.
DOI: 10.1016/j.neurobiolaging.2015.10.038
PubMed: 26639156
Affiliations:
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<front><div type="abstract" xml:lang="en">Recently, several CHCHD2 mutations were reported to be associated with autosomal dominant Parkinson's disease (PD) in a Japanese population. However, an association between CHCHD2 and PD was not observed in 2 Caucasian data sets. The present study searched for CHCHD2 coding variants in Canadian PD patients. Sanger sequencing of all CHCHD2 exons revealed no coding mutations in 155 familial cases. Moreover, 3 coding CHCHD2 polymorphisms available on the NeuroX array (Pro2Leu, Pro14Ser, and Ile118Met) were homozygous for the major allele in an additional 85 PD patients. Our study suggests that CHCHD2 mutations may not account for PD in Canadian patients.</div>
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<Abstract><AbstractText>Recently, several CHCHD2 mutations were reported to be associated with autosomal dominant Parkinson's disease (PD) in a Japanese population. However, an association between CHCHD2 and PD was not observed in 2 Caucasian data sets. The present study searched for CHCHD2 coding variants in Canadian PD patients. Sanger sequencing of all CHCHD2 exons revealed no coding mutations in 155 familial cases. Moreover, 3 coding CHCHD2 polymorphisms available on the NeuroX array (Pro2Leu, Pro14Ser, and Ile118Met) were homozygous for the major allele in an additional 85 PD patients. Our study suggests that CHCHD2 mutations may not account for PD in Canadian patients.</AbstractText>
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<tree><country name="Canada"><region name="Ontario"><name sortKey="Zhang, Ming" sort="Zhang, Ming" uniqKey="Zhang M" first="Ming" last="Zhang">Ming Zhang</name>
</region>
<name sortKey="Fang, Shilun" sort="Fang, Shilun" uniqKey="Fang S" first="Shilun" last="Fang">Shilun Fang</name>
<name sortKey="Ghani, Mahdi" sort="Ghani, Mahdi" uniqKey="Ghani M" first="Mahdi" last="Ghani">Mahdi Ghani</name>
<name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E" last="Lang">Anthony E. Lang</name>
<name sortKey="Liang, Yan" sort="Liang, Yan" uniqKey="Liang Y" first="Yan" last="Liang">Yan Liang</name>
<name sortKey="Moreno, Danielle" sort="Moreno, Danielle" uniqKey="Moreno D" first="Danielle" last="Moreno">Danielle Moreno</name>
<name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
<name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
<name sortKey="Xi, Zhengrui" sort="Xi, Zhengrui" uniqKey="Xi Z" first="Zhengrui" last="Xi">Zhengrui Xi</name>
</country>
</tree>
</affiliations>
</record>
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