Exhaustive gene expression analysis of the candidate genes related to pathology of autism spectrum disorder

• Project/Area Number: 22790996
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Pediatrics
• Research Institution: Jichi Medical University
• Principal Investigator: NAKASHIMA Naomi 自治医科大学, 医学部, 講師 (20337330)
• Project Period (FY): 2010 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000); Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000); Fiscal Year 2011: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000); Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
• Keywords: 自閉性障害 / シナプス関連遺伝子 / CGH 法 / CNV / CGH法 / シナプス機能関連 / シナプス機能関連遺伝子

Research Abstract

We analyzed array CGH for CNV and candidate genes for mutations on autism spectrum disorder (ASD) patients to identify genes for ASD and detect the target of treatment. We detected pathogenic CNV on 10 patients in 52 patients. Genes on CN V were SHANK3, M

Research Products

• [Journal Article] Familial analysis of mild intellectual disability and microduplication at Xp22.12 including RPS6KA3.
  • Author(s): Matsumoto A, Kuwagima M, Miyake K, Kojima K, Nakashima N, Jimbo E, Kubota T, Momoi MY, Yamagata T
  • Journal Title: J Hum Genet submitted Volume: Xp22 Pages: 12-12
• [Presentation] Duplication of GPC3 in the boy with growth retardation and developmental delay (2011)
  • Author(s): 中島尚美
  • Organizer: 第12回国際人類遺伝学会,モント
  • Place of Presentation: リオール(カナダ)
  • Year and Date: 2011-10-13
• [Presentation] Deletion of MAOA and MAOB in male siblings with severe mental retardation and autistic phenotype (2011)
  • Author(s): Saito M, Yamagata T, Shiba Y, Nakashima N, Nagashima M, Jimbo E, Momoi MY
  • Organizer: 第12回国際人類遺伝学会
  • Place of Presentation: リオール(カナダ)
  • Year and Date: 2011-10-13
• [Presentation] Duplication of GPC3 in the boy with growth retardation and developmental delay (2011)
  • Author(s): 中島尚美
  • Organizer: 第12回国際人類遺伝学会
  • Place of Presentation: モントリオールコンベンションセンター(カナダ)
  • Year and Date: 2011-10-13
• [Presentation] Deletion of MAOA and MAOB in male siblings with severe mental retardation and autistic phenotype (2011)
  • Author(s): Saito M, Yamagata T, Shiba Y, Nakashima N, Nagashima M, Jimbo E, Momoi MY
  • Organizer: 第12回国際人類遺伝学会
  • Place of Presentation: モントリオールコンベンションセンター(カナダ)
  • Year and Date: 2011-10-12