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Targeted capture sequence analysis and functional study of candidate genes for mental retardation and pervasive developmental disorder

Research Project

Project/Area Number 25860896
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionTeikyo University (2014)
独立行政法人国立精神・神経医療研究センター (2013)

Principal Investigator

WAGA Chikako  帝京大学, 理工学部, 研究員 (80462795)

Project Period (FY) 2013-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2013: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords知的障害(精神遅滞) / 遺伝子検査 / ターゲットシークエンス / 遺伝子変異 / 知的障害 / 次世代シークエンサー / 網羅的遺伝子解析 / 精神遅滞 / 遺伝子解析
Outline of Final Research Achievements

Previous twin studies have suggested that the gene mutation is a leading cause of intellectual disability (mental retardation) and pervasive developmental disorder. However, it is difficult to identify the responsible gene for each patient by using Sanger sequencing since there are a large number of candidate genes (over 600) for these diseases. The purpose of this study is to determine the responsible gene for the patients with intellectual disability. We performed the target sequencing of the exonic regions of 681 candidate genes in the 16 patients with intellectual disability by employing Miseq next generation sequencing, and identified the responsible gene in 3 patients (18.75%). The results indicate that the method in this study is useful for identification of the responsible gene, and lead to understanding of neuropathology of intellectual disability.

Report

(3 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • Research Products

    (2 results)

All 2014 2013

All Journal Article (1 results) (of which Peer Reviewed: 1 results) Presentation (1 results)

  • [Journal Article] Identification of two novel Shank3 transcripts in the developing mouse neocortex.2014

    • Author(s)
      Waga C, Asano H, Sanagi T, Suzuki E, Nakamura Y, Tsuchiya A, Itoh M, Goto Y, Kohsaka S, Uchino S.
    • Journal Title

      J Neurochem.

      Volume: 128 Pages: 280-293

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] X連鎖性精神遅滞患者における関連遺伝子解析.2013

    • Author(s)
      和賀央子,竹下絵里,中川栄二,後藤雄一
    • Organizer
      Neuro2013(第35回日本神経科学大会、第56回神経化学大会、第23回日本神経回路学会大会合同年会)
    • Place of Presentation
      京都 国立国際会議場
    • Related Report
      2013 Research-status Report

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Published: 2014-07-25   Modified: 2019-07-29  

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