Genetic analysis of the CHCHD2 gene in a cohort of Chinese patients with Parkinson disease
•CHCHD2 mutations may be rare in Chinese ADPD patients.•The result will stimulate researches about pathogenic role of the CHCHD2 gene.•The association of CHCHD2 mutations in PD needs to be assessed in more samples and other studies. CHCHD2 has been recently reported as a causative gene for autosomal...
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| Veröffentlicht in: | Neuroscience letters 2016-08, Vol.629, p.116-118 |
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| container_title | Neuroscience letters |
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| creator | Wu, Hongwei Lu, Xingjiao Xie, Fei Cen, Zhidong Zheng, Xiaosheng Luo, Wei |
| description | •CHCHD2 mutations may be rare in Chinese ADPD patients.•The result will stimulate researches about pathogenic role of the CHCHD2 gene.•The association of CHCHD2 mutations in PD needs to be assessed in more samples and other studies.
CHCHD2 has been recently reported as a causative gene for autosomal dominant Parkinson disease (ADPD) in Japanese populations. Further genetic studies of CHCHD2 in other populations are needed. Herein, we sequenced CHCHD2 gene in 162 patients (90 from ADPD pedigrees, 72 with sporadic Parkinson disease) and 90 healthy controls in Chinese population. We observed 5 exonic variants (c.-34C>A, c.-9T>G, c.5C>T, c.*125G>A, c.*154A>G) including 1 novel variant. No pathogenic mutation was found, suggesting that CHCHD2 mutations may be rare in Chinese ADPD patients. |
| doi_str_mv | 10.1016/j.neulet.2016.06.054 |
| format | Article |
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CHCHD2 has been recently reported as a causative gene for autosomal dominant Parkinson disease (ADPD) in Japanese populations. Further genetic studies of CHCHD2 in other populations are needed. Herein, we sequenced CHCHD2 gene in 162 patients (90 from ADPD pedigrees, 72 with sporadic Parkinson disease) and 90 healthy controls in Chinese population. We observed 5 exonic variants (c.-34C>A, c.-9T>G, c.5C>T, c.*125G>A, c.*154A>G) including 1 novel variant. No pathogenic mutation was found, suggesting that CHCHD2 mutations may be rare in Chinese ADPD patients.</description><identifier>ISSN: 0304-3940</identifier><identifier>EISSN: 1872-7972</identifier><identifier>DOI: 10.1016/j.neulet.2016.06.054</identifier><identifier>PMID: 27353515</identifier><language>eng</language><publisher>Ireland: Elsevier B.V</publisher><subject>Aged ; Asian Continental Ancestry Group ; Autosomal dominant Parkinson disease ; CHCHD2 ; China ; Chinese population ; Female ; Genetic Association Studies ; Humans ; Male ; Middle Aged ; Mitochondrial Proteins - genetics ; Mutation ; Parkinson disease ; Parkinson Disease - ethnology ; Parkinson Disease - genetics ; Pedigree ; Transcription Factors - genetics</subject><ispartof>Neuroscience letters, 2016-08, Vol.629, p.116-118</ispartof><rights>2016 Elsevier Ireland Ltd</rights><rights>Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c408t-d72473ce3dc7f194eda597ce4cc26743005f294f34032b5fd594af1fe36801f23</citedby><cites>FETCH-LOGICAL-c408t-d72473ce3dc7f194eda597ce4cc26743005f294f34032b5fd594af1fe36801f23</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.neulet.2016.06.054$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,778,782,3539,27907,27908,45978</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27353515$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wu, Hongwei</creatorcontrib><creatorcontrib>Lu, Xingjiao</creatorcontrib><creatorcontrib>Xie, Fei</creatorcontrib><creatorcontrib>Cen, Zhidong</creatorcontrib><creatorcontrib>Zheng, Xiaosheng</creatorcontrib><creatorcontrib>Luo, Wei</creatorcontrib><title>Genetic analysis of the CHCHD2 gene in a cohort of Chinese patients with Parkinson disease</title><title>Neuroscience letters</title><addtitle>Neurosci Lett</addtitle><description>•CHCHD2 mutations may be rare in Chinese ADPD patients.•The result will stimulate researches about pathogenic role of the CHCHD2 gene.•The association of CHCHD2 mutations in PD needs to be assessed in more samples and other studies.
CHCHD2 has been recently reported as a causative gene for autosomal dominant Parkinson disease (ADPD) in Japanese populations. Further genetic studies of CHCHD2 in other populations are needed. Herein, we sequenced CHCHD2 gene in 162 patients (90 from ADPD pedigrees, 72 with sporadic Parkinson disease) and 90 healthy controls in Chinese population. We observed 5 exonic variants (c.-34C>A, c.-9T>G, c.5C>T, c.*125G>A, c.*154A>G) including 1 novel variant. No pathogenic mutation was found, suggesting that CHCHD2 mutations may be rare in Chinese ADPD patients.</description><subject>Aged</subject><subject>Asian Continental Ancestry Group</subject><subject>Autosomal dominant Parkinson disease</subject><subject>CHCHD2</subject><subject>China</subject><subject>Chinese population</subject><subject>Female</subject><subject>Genetic Association Studies</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mitochondrial Proteins - genetics</subject><subject>Mutation</subject><subject>Parkinson disease</subject><subject>Parkinson Disease - ethnology</subject><subject>Parkinson Disease - genetics</subject><subject>Pedigree</subject><subject>Transcription Factors - genetics</subject><issn>0304-3940</issn><issn>1872-7972</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kE1LAzEQhoMotlb_gUiOXrbma5vuRZBVW0HQg168hDQ7sanbbE1Spf_elFaPwsDMMO98PQidUzKkhI6uFkMP6xbSkOVsSLKV4gD16ViyQlaSHaI-4UQUvBKkh05iXBBCSlqKY9Rjkpc8x330NgEPyRmsvW430UXcWZzmgOtpPb1l-D2XsfNYY9PNu5C25XruPETAK50c-BTxt0tz_KzDh_Ox87hxEXSEU3RkdRvhbO8H6PX-7qWeFo9Pk4f65rEwgoxT0UgmJDfAGyMtrQQ0uqykAWEMG0nB89GWVcJyQTiblbYpK6EttcBHY0It4wN0uZu7Ct3nGmJSSxcNtK320K2jomNK8wAueZaKndSELsYAVq2CW-qwUZSoLVW1UDuqaktVkWylyG0X-w3r2RKav6ZfjFlwvRNA_vPLQVDRZDQGGhfAJNV07v8NP2I_iXw</recordid><startdate>20160826</startdate><enddate>20160826</enddate><creator>Wu, Hongwei</creator><creator>Lu, Xingjiao</creator><creator>Xie, Fei</creator><creator>Cen, Zhidong</creator><creator>Zheng, Xiaosheng</creator><creator>Luo, Wei</creator><general>Elsevier B.V</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20160826</creationdate><title>Genetic analysis of the CHCHD2 gene in a cohort of Chinese patients with Parkinson disease</title><author>Wu, Hongwei ; Lu, Xingjiao ; Xie, Fei ; Cen, Zhidong ; Zheng, Xiaosheng ; Luo, Wei</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c408t-d72473ce3dc7f194eda597ce4cc26743005f294f34032b5fd594af1fe36801f23</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Aged</topic><topic>Asian Continental Ancestry Group</topic><topic>Autosomal dominant Parkinson disease</topic><topic>CHCHD2</topic><topic>China</topic><topic>Chinese population</topic><topic>Female</topic><topic>Genetic Association Studies</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mitochondrial Proteins - genetics</topic><topic>Mutation</topic><topic>Parkinson disease</topic><topic>Parkinson Disease - ethnology</topic><topic>Parkinson Disease - genetics</topic><topic>Pedigree</topic><topic>Transcription Factors - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Wu, Hongwei</creatorcontrib><creatorcontrib>Lu, Xingjiao</creatorcontrib><creatorcontrib>Xie, Fei</creatorcontrib><creatorcontrib>Cen, Zhidong</creatorcontrib><creatorcontrib>Zheng, Xiaosheng</creatorcontrib><creatorcontrib>Luo, Wei</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Neuroscience letters</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Wu, Hongwei</au><au>Lu, Xingjiao</au><au>Xie, Fei</au><au>Cen, Zhidong</au><au>Zheng, Xiaosheng</au><au>Luo, Wei</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Genetic analysis of the CHCHD2 gene in a cohort of Chinese patients with Parkinson disease</atitle><jtitle>Neuroscience letters</jtitle><addtitle>Neurosci Lett</addtitle><date>2016-08-26</date><risdate>2016</risdate><volume>629</volume><spage>116</spage><epage>118</epage><pages>116-118</pages><issn>0304-3940</issn><eissn>1872-7972</eissn><abstract>•CHCHD2 mutations may be rare in Chinese ADPD patients.•The result will stimulate researches about pathogenic role of the CHCHD2 gene.•The association of CHCHD2 mutations in PD needs to be assessed in more samples and other studies.
CHCHD2 has been recently reported as a causative gene for autosomal dominant Parkinson disease (ADPD) in Japanese populations. Further genetic studies of CHCHD2 in other populations are needed. Herein, we sequenced CHCHD2 gene in 162 patients (90 from ADPD pedigrees, 72 with sporadic Parkinson disease) and 90 healthy controls in Chinese population. We observed 5 exonic variants (c.-34C>A, c.-9T>G, c.5C>T, c.*125G>A, c.*154A>G) including 1 novel variant. No pathogenic mutation was found, suggesting that CHCHD2 mutations may be rare in Chinese ADPD patients.</abstract><cop>Ireland</cop><pub>Elsevier B.V</pub><pmid>27353515</pmid><doi>10.1016/j.neulet.2016.06.054</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record> |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Aged Asian Continental Ancestry Group Autosomal dominant Parkinson disease CHCHD2 China Chinese population Female Genetic Association Studies Humans Male Middle Aged Mitochondrial Proteins - genetics Mutation Parkinson disease Parkinson Disease - ethnology Parkinson Disease - genetics Pedigree Transcription Factors - genetics |
| title | Genetic analysis of the CHCHD2 gene in a cohort of Chinese patients with Parkinson disease |
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