Mutation analysis of Parkin, PINK1, DJ‐1 and ATP13A2 genes in Chinese patients with autosomal recessive early‐onset Parkinsonism
Identifieur interne : 003324 ( Main/Merge ); précédent : 003323; suivant : 003325Mutation analysis of Parkin, PINK1, DJ‐1 and ATP13A2 genes in Chinese patients with autosomal recessive early‐onset Parkinsonism
Auteurs : Ji-Feng Guo [République populaire de Chine] ; Bin Xiao [République populaire de Chine] ; Bing Liao [République populaire de Chine] ; Xue-Wei Zhang [République populaire de Chine] ; Li-Luo Nie [République populaire de Chine] ; Yu-Hu Zhang [République populaire de Chine] ; Lu Shen [République populaire de Chine] ; Hong Jiang [République populaire de Chine] ; Kun Xia [République populaire de Chine] ; Qian Pan [République populaire de Chine] ; Xin-Xiang Yan [République populaire de Chine] ; Bei-Sha Tang [République populaire de Chine]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-10-30.
English descriptors
- KwdEn :
- Adult, Age of Onset, Asian Continental Ancestry Group (genetics), DJ‐1, DNA Mutational Analysis (methods), Family Health, Female, Humans, Intracellular Signaling Peptides and Proteins (genetics), Male, Mutation (genetics), Oncogene Proteins (genetics), PINK1, Parkin, Parkinsonian Disorders (genetics), Protein Kinases (genetics), Proton-Translocating ATPases (genetics), Ubiquitin-Protein Ligases (genetics), Young Adult, autosomal recessive early‐onset Parkinsonism, mutations.
- MESH :
- chemical , genetics : Intracellular Signaling Peptides and Proteins, Oncogene Proteins, Protein Kinases, Proton-Translocating ATPases, Ubiquitin-Protein Ligases.
- genetics : Asian Continental Ancestry Group, Mutation, Parkinsonian Disorders.
- methods : DNA Mutational Analysis.
- Adult, Age of Onset, Family Health, Female, Humans, Male, Young Adult.
Abstract
Autosomal recessive early‐onset Parkinsonism (AREP) has been associated with mutations in the Parkin, PINK1, DJ‐1, and ATP13A2 genes. We studied the prevalence of mutations in all four genes in 29 Chinese unrelated families with AREP using direct sequencing analysis and real‐time quantitative PCR analysis assay. There are 14 families (48.3%) with mutations of Parkin gene, 2 families (6.9%) with mutations of PINK1 gene, and 1 family (3.4%) with mutation of DJ‐1 gene. No pathogenic mutations in ATP13A2 gene were found in these families. Three Parkin gene mutations (c.G859T, c.1069‐1074delGTGTCC, and c.T1422C) and one DJ‐1 gene mutation (c.T29C) have not been reported previously. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with AREP. Mutations of DJ‐1 and PINK1 gene are also found in Chinese families with AREP. Mutations in ATP13A2 gene may be rare in Chinese families with AREP. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22156
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Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Pan, Qian" sort="Pan, Qian" uniqKey="Pan Q" first="Qian" last="Pan">Qian Pan</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>National Laboratory of Medical Genetics of China, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Yan, Xin Iang" sort="Yan, Xin Iang" uniqKey="Yan X" first="Xin-Xiang" last="Yan">Xin-Xiang Yan</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Tang, Bei Ha" sort="Tang, Bei Ha" uniqKey="Tang B" first="Bei-Sha" last="Tang">Bei-Sha Tang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>National Laboratory of Medical Genetics of China, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-10-30">2008-10-30</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2074">2074</biblScope><biblScope unit="page" to="2079">2079</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">763B7F8A0260D63FC1C2157C76B408C6014A6476</idno><idno type="DOI">10.1002/mds.22156</idno><idno type="ArticleID">MDS22156</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Asian Continental Ancestry Group (genetics)</term><term>DJ‐1</term><term>DNA Mutational Analysis (methods)</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Intracellular Signaling Peptides and Proteins (genetics)</term><term>Male</term><term>Mutation (genetics)</term><term>Oncogene Proteins (genetics)</term><term>PINK1</term><term>Parkin</term><term>Parkinsonian Disorders (genetics)</term><term>Protein Kinases (genetics)</term><term>Proton-Translocating ATPases (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>Young Adult</term><term>autosomal recessive early‐onset Parkinsonism</term><term>mutations</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Intracellular Signaling Peptides and Proteins</term><term>Oncogene Proteins</term><term>Protein Kinases</term><term>Proton-Translocating ATPases</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term><term>Mutation</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Young Adult</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal recessive early‐onset Parkinsonism (AREP) has been associated with mutations in the Parkin, PINK1, DJ‐1, and ATP13A2 genes. We studied the prevalence of mutations in all four genes in 29 Chinese unrelated families with AREP using direct sequencing analysis and real‐time quantitative PCR analysis assay. There are 14 families (48.3%) with mutations of Parkin gene, 2 families (6.9%) with mutations of PINK1 gene, and 1 family (3.4%) with mutation of DJ‐1 gene. No pathogenic mutations in ATP13A2 gene were found in these families. Three Parkin gene mutations (c.G859T, c.1069‐1074delGTGTCC, and c.T1422C) and one DJ‐1 gene mutation (c.T29C) have not been reported previously. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with AREP. Mutations of DJ‐1 and PINK1 gene are also found in Chinese families with AREP. Mutations in ATP13A2 gene may be rare in Chinese families with AREP. © 2008 Movement Disorder Society</div></front></TEI><double doi="10.1002/mds.22156"><ISTEX><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutation analysis of Parkin, PINK1, DJ‐1 and ATP13A2 genes in Chinese patients with autosomal recessive early‐onset Parkinsonism</title><author><name sortKey="Guo, Ji Eng" sort="Guo, Ji Eng" uniqKey="Guo J" first="Ji-Feng" last="Guo">Ji-Feng Guo</name></author><author><name sortKey="Xiao, Bin" sort="Xiao, Bin" uniqKey="Xiao B" first="Bin" last="Xiao">Bin Xiao</name></author><author><name sortKey="Liao, Bing" sort="Liao, Bing" uniqKey="Liao B" first="Bing" last="Liao">Bing Liao</name></author><author><name sortKey="Zhang, Xue Ei" sort="Zhang, Xue Ei" uniqKey="Zhang X" first="Xue-Wei" last="Zhang">Xue-Wei Zhang</name></author><author><name sortKey="Nie, Li Uo" sort="Nie, Li Uo" uniqKey="Nie L" first="Li-Luo" last="Nie">Li-Luo Nie</name></author><author><name sortKey="Zhang, Yu U" sort="Zhang, Yu U" uniqKey="Zhang Y" first="Yu-Hu" last="Zhang">Yu-Hu Zhang</name></author><author><name sortKey="Shen, Lu" sort="Shen, Lu" uniqKey="Shen L" first="Lu" last="Shen">Lu Shen</name></author><author><name sortKey="Jiang, Hong" sort="Jiang, Hong" uniqKey="Jiang H" first="Hong" last="Jiang">Hong Jiang</name></author><author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name></author><author><name sortKey="Pan, Qian" sort="Pan, Qian" uniqKey="Pan Q" first="Qian" last="Pan">Qian Pan</name></author><author><name sortKey="Yan, Xin Iang" sort="Yan, Xin Iang" uniqKey="Yan X" first="Xin-Xiang" last="Yan">Xin-Xiang Yan</name></author><author><name sortKey="Tang, Bei Ha" sort="Tang, Bei Ha" uniqKey="Tang B" first="Bei-Sha" last="Tang">Bei-Sha Tang</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno 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University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Xiao, Bin" sort="Xiao, Bin" uniqKey="Xiao B" first="Bin" last="Xiao">Bin Xiao</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Liao, Bing" sort="Liao, Bing" uniqKey="Liao B" first="Bing" last="Liao">Bing Liao</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, Xue Ei" sort="Zhang, Xue Ei" uniqKey="Zhang X" first="Xue-Wei" last="Zhang">Xue-Wei Zhang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Nie, Li Uo" sort="Nie, Li Uo" uniqKey="Nie L" first="Li-Luo" last="Nie">Li-Luo Nie</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Zhang, Yu U" sort="Zhang, Yu U" uniqKey="Zhang Y" first="Yu-Hu" last="Zhang">Yu-Hu Zhang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Shen, Lu" sort="Shen, Lu" uniqKey="Shen L" first="Lu" last="Shen">Lu Shen</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Jiang, Hong" sort="Jiang, Hong" uniqKey="Jiang H" first="Hong" last="Jiang">Hong Jiang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Pan, Qian" sort="Pan, Qian" uniqKey="Pan Q" first="Qian" last="Pan">Qian Pan</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>National Laboratory of Medical Genetics of China, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Yan, Xin Iang" sort="Yan, Xin Iang" uniqKey="Yan X" first="Xin-Xiang" last="Yan">Xin-Xiang Yan</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Tang, Bei Ha" sort="Tang, Bei Ha" uniqKey="Tang B" first="Bei-Sha" last="Tang">Bei-Sha Tang</name><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Neurodegenerative Disorders Research Center, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>National Laboratory of Medical Genetics of China, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-10-30">2008-10-30</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">14</biblScope><biblScope unit="page" from="2074">2074</biblScope><biblScope unit="page" to="2079">2079</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">763B7F8A0260D63FC1C2157C76B408C6014A6476</idno><idno type="DOI">10.1002/mds.22156</idno><idno type="ArticleID">MDS22156</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>DJ‐1</term><term>PINK1</term><term>Parkin</term><term>autosomal recessive early‐onset Parkinsonism</term><term>mutations</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal recessive early‐onset Parkinsonism (AREP) has been associated with mutations in the Parkin, PINK1, DJ‐1, and ATP13A2 genes. We studied the prevalence of mutations in all four genes in 29 Chinese unrelated families with AREP using direct sequencing analysis and real‐time quantitative PCR analysis assay. There are 14 families (48.3%) with mutations of Parkin gene, 2 families (6.9%) with mutations of PINK1 gene, and 1 family (3.4%) with mutation of DJ‐1 gene. No pathogenic mutations in ATP13A2 gene were found in these families. Three Parkin gene mutations (c.G859T, c.1069‐1074delGTGTCC, and c.T1422C) and one DJ‐1 gene mutation (c.T29C) have not been reported previously. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with AREP. Mutations of DJ‐1 and PINK1 gene are also found in Chinese families with AREP. Mutations in ATP13A2 gene may be rare in Chinese families with AREP. © 2008 Movement Disorder Society</div></front></TEI></ISTEX><PubMed><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.</title><author><name sortKey="Guo, Ji Feng" sort="Guo, Ji Feng" uniqKey="Guo J" first="Ji-Feng" last="Guo">Ji-Feng Guo</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Xiao, Bin" sort="Xiao, Bin" uniqKey="Xiao B" first="Bin" last="Xiao">Bin Xiao</name></author><author><name sortKey="Liao, Bing" sort="Liao, Bing" uniqKey="Liao B" first="Bing" last="Liao">Bing Liao</name></author><author><name sortKey="Zhang, Xue Wei" sort="Zhang, Xue Wei" uniqKey="Zhang X" first="Xue-Wei" last="Zhang">Xue-Wei Zhang</name></author><author><name sortKey="Nie, Li Luo" sort="Nie, Li Luo" uniqKey="Nie L" first="Li-Luo" last="Nie">Li-Luo Nie</name></author><author><name sortKey="Zhang, Yu Hu" sort="Zhang, Yu Hu" uniqKey="Zhang Y" first="Yu-Hu" last="Zhang">Yu-Hu Zhang</name></author><author><name sortKey="Shen, Lu" sort="Shen, Lu" uniqKey="Shen L" first="Lu" last="Shen">Lu Shen</name></author><author><name sortKey="Jiang, Hong" sort="Jiang, Hong" uniqKey="Jiang H" first="Hong" last="Jiang">Hong Jiang</name></author><author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name></author><author><name sortKey="Pan, Qian" sort="Pan, Qian" uniqKey="Pan Q" first="Qian" last="Pan">Qian Pan</name></author><author><name sortKey="Yan, Xin Xiang" sort="Yan, Xin Xiang" uniqKey="Yan X" first="Xin-Xiang" last="Yan">Xin-Xiang Yan</name></author><author><name sortKey="Tang, Bei Sha" sort="Tang, Bei Sha" uniqKey="Tang B" first="Bei-Sha" last="Tang">Bei-Sha Tang</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2008">2008</date><idno type="doi">10.1002/mds.22156</idno><idno type="RBID">pubmed:18785233</idno><idno type="pmid">18785233</idno><idno type="wicri:Area/PubMed/Corpus">002038</idno><idno type="wicri:Area/PubMed/Curation">002038</idno><idno type="wicri:Area/PubMed/Checkpoint">002197</idno><idno type="wicri:Area/Ncbi/Merge">002325</idno><idno type="wicri:Area/Ncbi/Curation">002325</idno><idno type="wicri:Area/Ncbi/Checkpoint">002325</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.</title><author><name sortKey="Guo, Ji Feng" sort="Guo, Ji Feng" uniqKey="Guo J" first="Ji-Feng" last="Guo">Ji-Feng Guo</name><affiliation wicri:level="1"><nlm:affiliation>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, People's Republic of China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan</wicri:regionArea><wicri:noRegion>Hunan</wicri:noRegion></affiliation></author><author><name sortKey="Xiao, Bin" sort="Xiao, Bin" uniqKey="Xiao B" first="Bin" last="Xiao">Bin Xiao</name></author><author><name sortKey="Liao, Bing" sort="Liao, Bing" uniqKey="Liao B" first="Bing" last="Liao">Bing Liao</name></author><author><name sortKey="Zhang, Xue Wei" sort="Zhang, Xue Wei" uniqKey="Zhang X" first="Xue-Wei" last="Zhang">Xue-Wei Zhang</name></author><author><name sortKey="Nie, Li Luo" sort="Nie, Li Luo" uniqKey="Nie L" first="Li-Luo" last="Nie">Li-Luo Nie</name></author><author><name sortKey="Zhang, Yu Hu" sort="Zhang, Yu Hu" uniqKey="Zhang Y" first="Yu-Hu" last="Zhang">Yu-Hu Zhang</name></author><author><name sortKey="Shen, Lu" sort="Shen, Lu" uniqKey="Shen L" first="Lu" last="Shen">Lu Shen</name></author><author><name sortKey="Jiang, Hong" sort="Jiang, Hong" uniqKey="Jiang H" first="Hong" last="Jiang">Hong Jiang</name></author><author><name sortKey="Xia, Kun" sort="Xia, Kun" uniqKey="Xia K" first="Kun" last="Xia">Kun Xia</name></author><author><name sortKey="Pan, Qian" sort="Pan, Qian" uniqKey="Pan Q" first="Qian" last="Pan">Qian Pan</name></author><author><name sortKey="Yan, Xin Xiang" sort="Yan, Xin Xiang" uniqKey="Yan X" first="Xin-Xiang" last="Yan">Xin-Xiang Yan</name></author><author><name sortKey="Tang, Bei Sha" sort="Tang, Bei Sha" uniqKey="Tang B" first="Bei-Sha" last="Tang">Bei-Sha Tang</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2008" type="published">2008</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Asian Continental Ancestry Group (genetics)</term><term>DNA Mutational Analysis (methods)</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Intracellular Signaling Peptides and Proteins (genetics)</term><term>Male</term><term>Mutation (genetics)</term><term>Oncogene Proteins (genetics)</term><term>Parkinsonian Disorders (genetics)</term><term>Protein Kinases (genetics)</term><term>Proton-Translocating ATPases (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Intracellular Signaling Peptides and Proteins</term><term>Oncogene Proteins</term><term>Protein Kinases</term><term>Proton-Translocating ATPases</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term><term>Mutation</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Family Health</term><term>Female</term><term>Humans</term><term>Male</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Autosomal recessive early-onset Parkinsonism (AREP) has been associated with mutations in the Parkin, PINK1, DJ-1, and ATP13A2 genes. We studied the prevalence of mutations in all four genes in 29 Chinese unrelated families with AREP using direct sequencing analysis and real-time quantitative PCR analysis assay. There are 14 families (48.3%) with mutations of Parkin gene, 2 families (6.9%) with mutations of PINK1 gene, and 1 family (3.4%) with mutation of DJ-1 gene. No pathogenic mutations in ATP13A2 gene were found in these families. Three Parkin gene mutations (c.G859T, c.1069-1074delGTGTCC, and c.T1422C) and one DJ-1 gene mutation (c.T29C) have not been reported previously. In conclusion, Parkin gene mutation is the most common pathogenic factor in Chinese patients with AREP. Mutations of DJ-1 and PINK1 gene are also found in Chinese families with AREP. Mutations in ATP13A2 gene may be rare in Chinese families with AREP.</div></front></TEI></PubMed></double></record>Pour manipuler ce document sous Unix (Dilib)
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