VPS35 mutation in Japanese patients with typical Parkinson's disease.
Identifieur interne : 000B59 ( Main/Exploration ); précédent : 000B58; suivant : 000B60VPS35 mutation in Japanese patients with typical Parkinson's disease.
Auteurs : Maya Ando [Japon] ; Manabu Funayama ; Yuanzhe Li ; Kenichi Kashihara ; Yoshitake Murakami ; Nobutaka Ishizu ; Chizuko Toyoda ; Katsuhiko Noguchi ; Takashi Hashimoto ; Naoki Nakano ; Ryogen Sasaki ; Yasumasa Kokubo ; Shigeki Kuzuhara ; Kotaro Ogaki ; Chikara Yamashita ; Hiroyo Yoshino ; Taku Hatano ; Hiroyuki Tomiyama ; Nobutaka HattoriSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Asian Continental Ancestry Group (genetics), Asparagine (genetics), Aspartic Acid (genetics), Child, Disability Evaluation, Family Health, Female, Genetic Predisposition to Disease (genetics), Genetic Testing, Haplotypes, Humans, Male, Middle Aged, Mutation (genetics), Parkinson Disease (genetics), Vesicular Transport Proteins (genetics), Young Adult.
- MESH :
- chemical , genetics : Asparagine, Aspartic Acid, Vesicular Transport Proteins.
- genetics : Asian Continental Ancestry Group, Genetic Predisposition to Disease, Mutation, Parkinson Disease.
- Adolescent, Adult, Aged, Aged, 80 and over, Child, Disability Evaluation, Family Health, Female, Genetic Testing, Haplotypes, Humans, Male, Middle Aged, Young Adult.
Abstract
Vacuolar protein sorting 35 (VPS35) was recently reported to be a pathogenic gene for late-onset autosomal dominant Parkinson's disease (PD), using exome sequencing. To date, VPS35 mutations have been detected only in whites with PD. The aim of the present study was to determine the incidence and clinical features of Asian PD patients with VPS35 mutations. We screened 7 reported nonsynonymous missense variants of VPS35, including p.D620N, known as potentially disease-associated variants of PD, in 300 Japanese index patients with autosomal dominant PD and 433 patients with sporadic PD (SPD) by direct sequencing or high-resolution melting (HRM) analysis. In addition, we screened 579 controls for the p.D620N mutation by HRM analysis. The p.D620N mutation was detected in 3 patients with autosomal dominant PD (1.0%), in 1 patient with SPD (0.23%), and in no controls. None of the other reported variants of VPS35 were detected. Haplotype analysis suggested at least 3 independent founders for Japanese patients with p.D620N mutation. Patients with the VPS35 mutation showed typical tremor-predominant PD. We report Asian PD patients with the VPS35 mutation. Although VPS35 mutations are uncommon in PD, the frequency of such mutation is relatively higher in Japanese than reported in other populations. In VPS35, p.D620N substitution may be a mutational hot spot across different ethnic populations. Based on the clinical features, VPS35 should be analyzed in patients with PD, especially autosomal dominant PD or tremor-predominant PD.
DOI: 10.1002/mds.25145
PubMed: 22991136
Affiliations:
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">VPS35 mutation in Japanese patients with typical Parkinson's disease.</title><author><name sortKey="Ando, Maya" sort="Ando, Maya" uniqKey="Ando M" first="Maya" last="Ando">Maya Ando</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name></author><author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name></author><author><name sortKey="Kashihara, Kenichi" sort="Kashihara, Kenichi" uniqKey="Kashihara K" first="Kenichi" last="Kashihara">Kenichi Kashihara</name></author><author><name sortKey="Murakami, Yoshitake" sort="Murakami, Yoshitake" uniqKey="Murakami Y" first="Yoshitake" last="Murakami">Yoshitake Murakami</name></author><author><name sortKey="Ishizu, Nobutaka" sort="Ishizu, Nobutaka" uniqKey="Ishizu N" first="Nobutaka" last="Ishizu">Nobutaka Ishizu</name></author><author><name sortKey="Toyoda, Chizuko" sort="Toyoda, Chizuko" uniqKey="Toyoda C" first="Chizuko" last="Toyoda">Chizuko Toyoda</name></author><author><name sortKey="Noguchi, Katsuhiko" sort="Noguchi, Katsuhiko" uniqKey="Noguchi K" first="Katsuhiko" last="Noguchi">Katsuhiko Noguchi</name></author><author><name sortKey="Hashimoto, Takashi" sort="Hashimoto, Takashi" uniqKey="Hashimoto T" first="Takashi" last="Hashimoto">Takashi Hashimoto</name></author><author><name sortKey="Nakano, Naoki" sort="Nakano, Naoki" uniqKey="Nakano N" first="Naoki" last="Nakano">Naoki Nakano</name></author><author><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name></author><author><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name></author><author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name></author><author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name></author><author><name sortKey="Yamashita, Chikara" sort="Yamashita, Chikara" uniqKey="Yamashita C" first="Chikara" last="Yamashita">Chikara Yamashita</name></author><author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name></author><author><name sortKey="Hatano, Taku" sort="Hatano, Taku" uniqKey="Hatano T" first="Taku" last="Hatano">Taku Hatano</name></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2012">2012</date><idno type="doi">10.1002/mds.25145</idno><idno type="RBID">pubmed:22991136</idno><idno type="pmid">22991136</idno><idno type="wicri:Area/PubMed/Corpus">000C42</idno><idno type="wicri:Area/PubMed/Curation">000C42</idno><idno type="wicri:Area/PubMed/Checkpoint">000B66</idno><idno type="wicri:Area/Ncbi/Merge">003820</idno><idno type="wicri:Area/Ncbi/Curation">003820</idno><idno type="wicri:Area/Ncbi/Checkpoint">003820</idno><idno type="wicri:Area/Main/Merge">000B60</idno><idno type="wicri:Area/Main/Curation">000B59</idno><idno type="wicri:Area/Main/Exploration">000B59</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">VPS35 mutation in Japanese patients with typical Parkinson's disease.</title><author><name sortKey="Ando, Maya" sort="Ando, Maya" uniqKey="Ando M" first="Maya" last="Ando">Maya Ando</name><affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name></author><author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name></author><author><name sortKey="Kashihara, Kenichi" sort="Kashihara, Kenichi" uniqKey="Kashihara K" first="Kenichi" last="Kashihara">Kenichi Kashihara</name></author><author><name sortKey="Murakami, Yoshitake" sort="Murakami, Yoshitake" uniqKey="Murakami Y" first="Yoshitake" last="Murakami">Yoshitake Murakami</name></author><author><name sortKey="Ishizu, Nobutaka" sort="Ishizu, Nobutaka" uniqKey="Ishizu N" first="Nobutaka" last="Ishizu">Nobutaka Ishizu</name></author><author><name sortKey="Toyoda, Chizuko" sort="Toyoda, Chizuko" uniqKey="Toyoda C" first="Chizuko" last="Toyoda">Chizuko Toyoda</name></author><author><name sortKey="Noguchi, Katsuhiko" sort="Noguchi, Katsuhiko" uniqKey="Noguchi K" first="Katsuhiko" last="Noguchi">Katsuhiko Noguchi</name></author><author><name sortKey="Hashimoto, Takashi" sort="Hashimoto, Takashi" uniqKey="Hashimoto T" first="Takashi" last="Hashimoto">Takashi Hashimoto</name></author><author><name sortKey="Nakano, Naoki" sort="Nakano, Naoki" uniqKey="Nakano N" first="Naoki" last="Nakano">Naoki Nakano</name></author><author><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name></author><author><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name></author><author><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name></author><author><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name></author><author><name sortKey="Yamashita, Chikara" sort="Yamashita, Chikara" uniqKey="Yamashita C" first="Chikara" last="Yamashita">Chikara Yamashita</name></author><author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name></author><author><name sortKey="Hatano, Taku" sort="Hatano, Taku" uniqKey="Hatano T" first="Taku" last="Hatano">Taku Hatano</name></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</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="2012" type="published">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Asian Continental Ancestry Group (genetics)</term><term>Asparagine (genetics)</term><term>Aspartic Acid (genetics)</term><term>Child</term><term>Disability Evaluation</term><term>Family Health</term><term>Female</term><term>Genetic Predisposition to Disease (genetics)</term><term>Genetic Testing</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Vesicular Transport Proteins (genetics)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Asparagine</term><term>Aspartic Acid</term><term>Vesicular Transport Proteins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term><term>Genetic Predisposition to Disease</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Child</term><term>Disability Evaluation</term><term>Family Health</term><term>Female</term><term>Genetic Testing</term><term>Haplotypes</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Vacuolar protein sorting 35 (VPS35) was recently reported to be a pathogenic gene for late-onset autosomal dominant Parkinson's disease (PD), using exome sequencing. To date, VPS35 mutations have been detected only in whites with PD. The aim of the present study was to determine the incidence and clinical features of Asian PD patients with VPS35 mutations. We screened 7 reported nonsynonymous missense variants of VPS35, including p.D620N, known as potentially disease-associated variants of PD, in 300 Japanese index patients with autosomal dominant PD and 433 patients with sporadic PD (SPD) by direct sequencing or high-resolution melting (HRM) analysis. In addition, we screened 579 controls for the p.D620N mutation by HRM analysis. The p.D620N mutation was detected in 3 patients with autosomal dominant PD (1.0%), in 1 patient with SPD (0.23%), and in no controls. None of the other reported variants of VPS35 were detected. Haplotype analysis suggested at least 3 independent founders for Japanese patients with p.D620N mutation. Patients with the VPS35 mutation showed typical tremor-predominant PD. We report Asian PD patients with the VPS35 mutation. Although VPS35 mutations are uncommon in PD, the frequency of such mutation is relatively higher in Japanese than reported in other populations. In VPS35, p.D620N substitution may be a mutational hot spot across different ethnic populations. Based on the clinical features, VPS35 should be analyzed in patients with PD, especially autosomal dominant PD or tremor-predominant PD.</div></front></TEI><affiliations><list><country><li>Japon</li></country><settlement><li>Tokyo</li></settlement></list><tree><noCountry><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name><name sortKey="Hashimoto, Takashi" sort="Hashimoto, Takashi" uniqKey="Hashimoto T" first="Takashi" last="Hashimoto">Takashi Hashimoto</name><name sortKey="Hatano, Taku" sort="Hatano, Taku" uniqKey="Hatano T" first="Taku" last="Hatano">Taku Hatano</name><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><name sortKey="Ishizu, Nobutaka" sort="Ishizu, Nobutaka" uniqKey="Ishizu N" first="Nobutaka" last="Ishizu">Nobutaka Ishizu</name><name sortKey="Kashihara, Kenichi" sort="Kashihara, Kenichi" uniqKey="Kashihara K" first="Kenichi" last="Kashihara">Kenichi Kashihara</name><name sortKey="Kokubo, Yasumasa" sort="Kokubo, Yasumasa" uniqKey="Kokubo Y" first="Yasumasa" last="Kokubo">Yasumasa Kokubo</name><name sortKey="Kuzuhara, Shigeki" sort="Kuzuhara, Shigeki" uniqKey="Kuzuhara S" first="Shigeki" last="Kuzuhara">Shigeki Kuzuhara</name><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name><name sortKey="Murakami, Yoshitake" sort="Murakami, Yoshitake" uniqKey="Murakami Y" first="Yoshitake" last="Murakami">Yoshitake Murakami</name><name sortKey="Nakano, Naoki" sort="Nakano, Naoki" uniqKey="Nakano N" first="Naoki" last="Nakano">Naoki Nakano</name><name sortKey="Noguchi, Katsuhiko" sort="Noguchi, Katsuhiko" uniqKey="Noguchi K" first="Katsuhiko" last="Noguchi">Katsuhiko Noguchi</name><name sortKey="Ogaki, Kotaro" sort="Ogaki, Kotaro" uniqKey="Ogaki K" first="Kotaro" last="Ogaki">Kotaro Ogaki</name><name sortKey="Sasaki, Ryogen" sort="Sasaki, Ryogen" uniqKey="Sasaki R" first="Ryogen" last="Sasaki">Ryogen Sasaki</name><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><name sortKey="Toyoda, Chizuko" sort="Toyoda, Chizuko" uniqKey="Toyoda C" first="Chizuko" last="Toyoda">Chizuko Toyoda</name><name sortKey="Yamashita, Chikara" sort="Yamashita, Chikara" uniqKey="Yamashita C" first="Chikara" last="Yamashita">Chikara Yamashita</name><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name></noCountry><country name="Japon"><noRegion><name sortKey="Ando, Maya" sort="Ando, Maya" uniqKey="Ando M" first="Maya" last="Ando">Maya Ando</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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