Splice site mutation of MAMLD1 in disorders of sex development patients

• Project/Area Number: 21790899
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Endocrinology
• Research Institution: National Research Institute for Child Health and Development
• Principal Investigator: WADA Yuka 独立行政法人国立成育医療研究センター, 分子内分泌研究部, 共同研究員 (80399485)
• Project Period (FY): 2009 – 2010
• Project Status: Completed (Fiscal Year 2010)
• Budget Amount: ¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000); Fiscal Year 2010: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000); Fiscal Year 2009: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
• Keywords: 分子遺伝学 / 尿道下裂 / スプライシング

Research Abstract

We performed mutation screening for CXorf6 in hypospadias patients and identified a novel splice site mutation, IVS4-2A>G. we indicate that the mutation is a novel causative gene for hypospadias and is involved in MAMLD1.

Research Products

• [Journal Article] Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with Campomelic dysplasia or Acampomelic dysplasia (2009)
  • Author(s): Wada Y, Nishimura G, Nagai T, Sawai H, Yoshikata M, Miyagawa S, Hanita T, Sato S, Hasegawa T, Ishikawa S, Ogata T.
  • Journal Title: Am J Med Genet. 149A(12) Pages: 2882-2885
  • Peer Reviewed
• [Journal Article] 尿道下裂 (2009)
  • Author(s): 深見真紀、和田友香、緒方勤
  • Journal Title: 小児科 50(7) Pages: 939-945
• [Journal Article] Mutation analysis of SOX9 and single copy number variantanalysis of the upstream region in eight patients with Campomelic dysplasia or Acampomelic dysplasia. (2009)
  • Author(s): Wada Y, Nishimura G, Nagai T, Sawai H, Yoshikata M, Miyagawa S, Hanita T, Sato S, Hasegawa T, Ishikawa S, Ogata T.
  • Journal Title: Am J Med Genet. 149A(12) Pages: 2882-5
  • Peer Reviewed
• [Presentation] 新生児低血糖における簡易血糖測定器2機種(StatStrip、メディセーフミニ)の比較と血糖干渉物質 (2010)
  • Author(s): 和田友香、垣内五月、花井彩江、高橋重裕、藤永英志、難波由喜子、塚本桂子、伊藤裕司、中村知夫
  • Organizer: 第46回日本周産期・新生児医学会学術総会
  • Place of Presentation: 神戸
• [Presentation] Campomelic dysplasiaとAcampomelic campomelic dysplasia8症例におけるSOX9変異解析とCNV解析 (2009)
  • Author(s): 和田友香
  • Organizer: 第32回日本小児遺伝学会学術集会
  • Place of Presentation: 奈良
  • Year and Date: 2009-04-16
• [Presentation] MAMLD1遺伝子におけるスプライス部位変異(IVS4-2A>G)の検討 (2009)
  • Author(s): 和田友香
  • Organizer: 日本小児科学会学術集会
  • Place of Presentation: 奈良
• [Presentation] MAMLDI遺伝子におけるスプライス部位変異(IVS4-2A>G)の検討 (2009)
  • Author(s): 和田友香
  • Organizer: 日本小児科学会学術集会
  • Place of Presentation: 奈良