A genetic study of patients with multiple system atrophy from consanguineous families
Project/Area Number |
25860700
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Neurology
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Research Institution | The University of Tokyo |
Principal Investigator |
MITSUI Jun 東京大学, 医学部附属病院, 助教 (70579862)
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Project Period (FY) |
2013-04-01 – 2015-03-31
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Project Status |
Completed (Fiscal Year 2014)
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Budget Amount *help |
¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2013: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
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Keywords | 遺伝学 / 連鎖解析 / 次世代シーケンサー / 神経変性疾患 / エクソーム解析 / 常染色体劣性遺伝性 / 分子遺伝学的研究 |
Outline of Final Research Achievements |
Two consanguineous families with multiple system atrophy were newly identified, and in total, six pedigrees with multiple system atrophy were subjected to this study. In the parametric linkage analysis allowing for heterogeneity, we did not find any apparent candidate loci. Subsequently, exome sequencing analysis was conducted in six probands with multiple system atrophy. Removing variants with a minor allele frequency > 0.1%, several candidate variants in the homozygous state remained in each pedigree. However, we did not detect any common variants shared in more than one family.
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Report
(3 results)
Research Products
(17 results)
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[Journal Article] Variants associated with Gaucher disease in multiple system atrophy.2015
Author(s)
Mitsui J, Matsukawa T, Sasaki H, Yabe I, Nakahara Y, Momose Y, Takahashi Y, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Tsuji S, et al.
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Journal Title
Ann Clin Transl Neurol.
Volume: 2
Issue: 4
Pages: 417-426
DOI
Related Report
Peer Reviewed / Open Access
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[Journal Article] Rapid detection of expanded short tandem repeats in personal genomics using hybrid sequencing.2014
Author(s)
Doi K, Monjo T, Hoang PH, Yoshimura J, Yurino H, Mitsui J, Ishiura H, Takahashi Y, Ichikawa Y, Goto J, Tsuji S, Morishita S.
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Journal Title
Bioinformatics
Volume: 30
Issue: 6
Pages: 815-822
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.2014
Author(s)
Yamada, M., M. Tanaka, M. Takagi, S. Kobayashi, Y. Taguchi, S. Takashima, K. Tanaka, T. Touge, H. Hatsuta, S. Murayama, Y. Hayashi, M. Kaneko, H. Ishiura, J. Mitsui, N. Atsuta, G. Sobue, N. Shimozawa, T. Inuzuka, S. Tsuji and I. Hozumi
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Journal Title
Neurology
Volume: 82
Issue: 8
Pages: 705-712
DOI
Related Report
Peer Reviewed
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[Journal Article] Exome analysis reveals a Japanese family with spinocerebellar ataxia, autosomal recessive 1.2013
Author(s)
Ichikawa Y, Ishiura H, Mitsui J, Takahashi Y, Kobayashi S, Takuma H, Kanazawa I, Doi K, Yoshimura J, Morishita S, Goto J, Tsuji S
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Journal Title
J. Neurol. Sci.
Volume: 331
Issue: 1-2
Pages: 158-160
DOI
Related Report
Peer Reviewed
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[Journal Article] Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.2013
Author(s)
Ishii A, Saito Y, Mitsui J, Ishiura H, Yoshimura J, Arai H, Yamashita S, Kimura S, Oguni H, Morishita S, Tsuji S, Sasaki M, Hirose S.
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Journal Title
PLoS One
Volume: 8
Issue: 2
Pages: e56120-e56120
DOI
Related Report
Peer Reviewed
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[Journal Article] A recurrent de novo FAM111A mutation causes Kenny–Caffey syndrome type 2.2013
Author(s)
Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, and Kitanaka S.
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Journal Title
J Bone Mineral Res
Volume: 29
Issue: 4
Pages: 992-998
DOI
Related Report
Peer Reviewed / Open Access
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