Identification and functional analysis of risk genes in multiplex ADHD families; multidimensional evaluation of neurodevelopmental disorders
| Project/Area Number |
17K10276
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Psychiatric science
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| Research Institution | Nagasaki University |
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Principal Investigator |
IMAMURA Akira 長崎大学, 病院(医学系), 教授 (40325642)
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| Co-Investigator(Kenkyū-buntansha) |
吉浦 孝一郎 長崎大学, 原爆後障害医療研究所, 教授 (00304931)
黒滝 直弘 香川大学, 医学部, 教授 (20423634)
小澤 寛樹 長崎大学, 医歯薬学総合研究科(医学系), 教授 (50260766)
金替 伸治 長崎大学, 病院(医学系), 助教 (70404275)
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| Project Period (FY) |
2017-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2019: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2018: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2017: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
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| Keywords | 注意欠如・多動症 / 自閉スペクトラム症 / 神経発達症 / 全エクソンシーケンス / rare-risk variant / 家系研究 / ADHD / 発達障害 / Familial study / MSPA / 遺伝子 / 遺伝子解析 |
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| Outline of Final Research Achievements |
In this study, we performed whole-exome sequencing (WES) on Japanese families, several members of which had ADHD/ASD, and identified variants linked to these disorders. Two families were entered into our study. After written informed consent was obtained from all participants or their parents, clinical symptoms were evaluated using Multi-dimensional Scale for PDD and ADHD. Genomic DNA were extracted from peripheral blood and subsequently subjected to WES. In one of the two families, one SNV was identified in the TRIP12 gene. In the other family, 256 candidate mutations were identified, making it difficult to narrow down the pathogenic variants. Next, we performed TRIP12 mutation screening using samples of sporadic ADHD/ASD patients. We found one patient with a de novo mutation of TRIP12. We will report the clinical information of familial/sporadic cases with TRIP12 mutations.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究において、これまで報告されていないTRIP12遺伝子の変異と、その変異を有する患者の臨床情報を得ることができた。このデータは未だ不明である注意欠如・多動症や自閉スペクトラム症等を併存する神経発達症の病態生理解明の一助となる可能性があり、また注意欠如・多動症や自閉スペクトラム症等を併存する神経発達症児に対する早期診断・早期介入や、今後の個別化医療の展開に役立つ可能性がある。
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Report
(4 results)
Research Products
(41 results)
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[Journal Article] Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities2019
Author(s)
Morimoto Y, Yoshida S, Kinoshita A, Satoh C, Mishima H, Yamaguchi N, Matsuda K, Sakaguchi M, Tanaka T, Komohara Y, Imamura A, Ozawa H, Nakashima M, Kurotaki N, Kishino T, Yoshiura K, Ono S
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Journal Title
Neurology
Volume: 92
Issue: 20
DOI
NAID
Related Report
Peer Reviewed / Open Access
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[Journal Article] Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder. Transl Psychiatry.2018
Author(s)
Morimoto Y, Shimada-Sugimoto M, Otowa T, Yoshida S, Kinoshita A, Mishima H, Yamaguchi N, Mori T, Imamura A, Ozawa H, Kurotaki N, Ziegler C, Domschke K, Deckert J, Umekage T, Tochigi M, Kaiya H, Okazaki Y, Tokunaga K, Sasaki T, Yoshiura KI, Ono S.
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Journal Title
Transl Psychiatry
Volume: 8
Issue: 1
Pages: 41-41
DOI
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity2017
Author(s)
Nishi Akira、Numata Shusuke、Tajima Atsushi、Zhu Xiaolei、Ito Koki、Saito Atsushi、Kato Yusuke、Kinoshita Makoto、Shimodera Shinji、Ono Shinji、Ochi Shinichiro、Imamura Akira、Kurotaki Naohiro、Ueno Shu-ichi、Iwata Nakao、Fukui Kiyoshi、Imoto Issei、Kamiya Atsushi、Ohmori Tetsuro
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Journal Title
Scientific Reports
Volume: 7
Issue: 1
Pages: 2887-2887
DOI
NAID
Related Report
Peer Reviewed / Open Access / Int'l Joint Research
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[Journal Article] Characteristics of Inattention and Hyperactivity, Perception of General Health, and Reading Literacy of Japanese Adolescents: Results from a Large-scale Community Sample,2017
Author(s)
Yamada S, Imamura A, Honda S, Iwanaga R, Shibuya K, Winnie D, Ozawa H,
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Journal Title
Acta medica Nagasakiensia
Volume: 61
Pages: 71-79
NAID
Related Report
Peer Reviewed
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[Presentation] Whole exome sequencing of case-unaffected parents trios reveal de novo genetic variants in gender dysphoria2018
Author(s)
Morimoto Y, Ono S, Yoshida S, Kinoshita A, Mishima H, Yoshiura K, Imamura A, Ozawa H, Kurotaki N, Kinoshita H
Organizer
WFSBP Asia Pacific Regional Congress of Biological Psychiatry, Program & Abstract Book
Related Report
Int'l Joint Research
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[Presentation] 当院精神科一般外来におけるADHD患者の有病率調査2018
Author(s)
尾林 誉史, 福嶋 翔, 濱口 学, 田崎 希美, 松峰 須美代, 金澤 恭子, 佐田 美佐子, 竹村 桂子, 松本 一隆, 今村 明, 岡崎 祐士
Organizer
精神神経学雑誌特別号
Related Report
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[Presentation] 二次救急医療機関を対象とした自殺未遂者支援の取り組み 未遂者支援と連携状況に関する調査を通して2018
Author(s)
福田 和久, 井手 みのり, 池井 ありさ, 岩倉 由佳, 楠本 優子, 船本 優子, 増田 瑶子, 木下 裕久, 黒滝 直弘, 今村 明, 小澤 寛樹
Organizer
心身医学
Related Report
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