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Genomic analysis identifies candidate pathogenic variants in trios with West syndrome by using array CGH

Research Project

Project/Area Number 25461536
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionTohoku University

Principal Investigator

Hino-Fukuyo Naomi  東北大学, 大学病院, 助教 (90400366)

Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2015: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywordsウエスト症候群 / infantile spasms / アレイCGH / トリオ検体 / 次世代シーケンサー / エクソーム解析 / de novo / トリオサンプル / アレイCGH
Outline of Final Research Achievements

West syndrome, which is narrowly defined as infantile spasms that occur in clusters and hypsarrhythmia on EEG, is the most common early-onset epileptic
encephalopathy (EOEE). The genetic etiology of most cases of West syndrome remains unexplained. DNA from 18 patients with unexplained West syndrome was subjected to microarray-based comparative genomic hybridization (array CGH), followed by trio-based whole-exome sequencing in 14 unsolved families. The array CGH revealed candidate pathogenic copy number variations in two cases, including an Xq28 duplication and a 19p13.2 deletion. Whole-exome sequencing identified candidate mutations in known epilepsy genes in five cases.There candidate de novo mutations were identified in three cases, with two mutations occurring in two new candidate genes (NR2F1 and CACNA2D1). Hemizygous candidate mutations in ALG13 and BRWD3 were identified in the other two cases.

Report

(4 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (5 results)

All 2015 2014

All Journal Article (2 results) (of which Peer Reviewed: 2 results,  Open Access: 1 results) Presentation (3 results)

  • [Journal Article] Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.2015

    • Author(s)
      Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Sato Y, Nakayama T, Kakisaka Y, Kubota Y, Kobayashi T, Funayama R, Nakayama K, Uematsu M, Aoki Y, Haginoya K, Kure S.
    • Journal Title

      Hum Genet.

      Volume: 134 Issue: 6 Pages: 649-658

    • DOI

      10.1007/s00439-015-1553-6

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] ビガバトリンを第一選択に用いた結節性硬化症を伴うウエスト症候群の1例2014

    • Author(s)
      佐藤優子、福與なおみら
    • Journal Title

      小児科臨床

      Volume: 67 Pages: 1047-1050

    • Related Report
      2014 Research-status Report
    • Peer Reviewed
  • [Presentation] 網羅的ゲノム解析によって候補遺伝子が明らかになった潜因性West症候群2015

    • Author(s)
      福與なおみ他
    • Organizer
      日本てんかん学会
    • Place of Presentation
      長崎(長崎ブリックホール)
    • Year and Date
      2015-10-30
    • Related Report
      2015 Annual Research Report
  • [Presentation] 潜因性West症候群の網羅的ゲノム解析ー18症例中9例で候補遺伝子を同定-2015

    • Author(s)
      菊池敦生、福與なおみ他
    • Organizer
      第60回日本臨床遺伝学会
    • Place of Presentation
      東京(京王プラザホテル)
    • Year and Date
      2015-10-14
    • Related Report
      2015 Annual Research Report
  • [Presentation] 潜因性West症候群に対する 網羅的ゲノム解析による遺伝学的診断の有用性2015

    • Author(s)
      菊池敦生、福與なおみ他
    • Organizer
      第57回日本小児神経学会
    • Place of Presentation
      大阪(帝国ホテル大阪)
    • Year and Date
      2015-05-28
    • Related Report
      2015 Annual Research Report

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

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