Mutation analysis among Japanese patients with Usher syndrome for constructing genotype-phenotype correlation

• Project/Area Number: 20791189
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Otorhinolaryngology
• Research Institution: Hamamatsu University School of Medicine
• Principal Investigator: NAKANISHI Hiroshi Hamamatsu University School of Medicine, 医学部, リサーチアシスタント (20444359)
• Project Period (FY): 2008 – 2009
• Project Status: Completed (Fiscal Year 2009)
• Budget Amount: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000); Fiscal Year 2009: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000); Fiscal Year 2008: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
• Keywords: 遺伝子 / 感音難聴 / 網膜色素変性症 / アッシャー症候群 / 綱膜色素変性症

Research Abstract

Mutation analysis of USH2A in 10 unrelated Japanese patients with Usher syndrome type 2 revealed 14 different pathogenic mutations in 8 patients. Of these, 11 mutations were novel. Splicing mutation c.8559-2A>G was identified in 4 of 10 patients. These results indicate that mutation spectrum for USH2A among Japanese patients differs from that of European Caucasians and c.8559-2A>G may be a frequent mutation in Japanese patients.

Research Products

• [Journal Article] 非典型的臨床症状を示したUSH2A遺伝子変異例 (2010)
  • Author(s): 中西啓、岩崎聡、瀧澤義徳、橋本泰幸、水田邦博、峯田周幸
  • Journal Title: 耳鼻咽喉科臨床 103巻 Pages: 413-419
  • NAID: 10026217330
  • Peer Reviewed
• [Journal Article] 非典型的臨床症状を示したUSH2A遺伝子変異例 (2010)
  • Author(s): 中西啓
  • Journal Title: 耳鼻咽喉科臨床 103 Pages: 413-419
  • NAID: 10026217330
  • Peer Reviewed
• [Journal Article] Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2 (2009)
  • Author(s): Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Mizuta K, Mineta H, Minoshima S
  • Journal Title: Clinical Genetics 76 Pages: 383-391
  • Peer Reviewed
• [Journal Article] SLC26A4に遺伝子変異を認めた前庭水管拡張症の2例 (2009)
  • Author(s): 中西啓、岩崎聡、今井篤志、林理佐子、水田邦博、峯田周幸
  • Journal Title: 耳鼻咽喉科臨床 102巻 Pages: 713-718
  • NAID: 10025097109
  • Peer Reviewed
• [Journal Article] Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2 (2009)
  • Author(s): 中西啓
  • Journal Title: Clinical Genetics 76 Pages: 383-391
  • Peer Reviewed
• [Journal Article] SLC26A4に遺伝子変異を認めた前庭水管拡張症の2例 (2009)
  • Author(s): 中西啓
  • Journal Title: 耳鼻咽喉科臨床 102 Pages: 713-718
  • NAID: 10025097109
  • Peer Reviewed
• [Journal Article] Lemierre症候群例 (2008)
  • Author(s): 中西啓、荒井真木、細川誠二、岩崎聡、水田邦博、峯田周幸
  • Journal Title: 耳鼻咽喉科臨床 101巻 Pages: 473-477
  • NAID: 10021294883
  • Peer Reviewed
• [Journal Article] Lemierre症候群例 (2008)
  • Author(s): 中西啓
  • Journal Title: 耳鼻咽喉科臨床 6 Pages: 473-7
  • NAID: 10021294883
  • Peer Reviewed
• [Presentation] Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2 (2010)
  • Author(s): Nakanishi H, Ohtsubo M, Iwasaki S, Hosokawa S, Hotta Y, Mizuta K, Mineta H, Minoshima S
  • Organizer: Association for Research of Otolarungology
  • Place of Presentation: Anaheim, CA, USA
• [Presentation] Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2 (2010)
  • Author(s): Hiroshi Nakanishi
  • Organizer: Association for Research of Otolaryngology
  • Place of Presentation: Anaheim, CA, USA
• [Presentation] 本邦におけるアッシャー症候群の遺伝子解析 (2009)
  • Author(s): 中西啓、岩崎聡、姜洪仁、橋本泰幸、水田邦博、峯田周幸
  • Organizer: 日本耳科学会
  • Place of Presentation: 京王プラザホテル
• [Presentation] 本邦におけるアッシャー症候群の遺伝子解析 (2009)
  • Author(s): 中西啓、大坪正史、岩崎聡、堀田喜裕、水田邦博、峯田周幸、蓑島伸生
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: グランドプリンスホテル高輪
• [Presentation] 本邦におけるアッシャー症候群の遺伝子解析 (2009)
  • Author(s): 中西啓、堀田喜裕、大坪正史、岩崎聡、水田邦博、峯田周幸、蓑島伸生
  • Organizer: 日本眼科学会
  • Place of Presentation: 東京国際フォーラム
• [Presentation] 本邦におけるアッシャー症候群患者の遺伝子変異解析 (2008)
  • Author(s): 中西啓
  • Organizer: 第31回日本分子生物学会年会・第81回日本生化学会大会合同大会
  • Place of Presentation: 神戸ポートアイランド
  • Year and Date: 2008-12-09
• [Presentation] 本邦におけるアッシャー症候群の遺伝子解析 (2008)
  • Author(s): 中西啓
  • Organizer: 第18回日本耳科学会総会
  • Place of Presentation: 神戸国際会議場
  • Year and Date: 2008-10-16
• [Presentation] 本邦におけるアッシャー症候群患者の遺伝子解析 (2008)
  • Author(s): 中西啓
  • Organizer: 日本人類遺伝学会第53回大会
  • Place of Presentation: パシフィコ横浜
  • Year and Date: 2008-09-30
• [Presentation] 本邦のアッシャー症候群患者の遺伝子変異解析 (2008)
  • Author(s): 中西啓、大坪正史、岩崎聡、細野克弘、中西伸夫、堀田喜裕、水田邦博、峯田周幸、蓑島伸生
  • Organizer: 日本分子生物学会・日本生化学会
• [Presentation] 本邦におけるアッシャー症候群の遺伝子解析 (2008)
  • Author(s): 中西啓、岩崎聡、姜洪仁、橋本泰幸、水田邦博、峯田周幸
  • Organizer: 日本耳科学会
  • Place of Presentation: 神戸国際会議場
• [Presentation] 本邦におけるアッシャー症候群患者の遺伝子解析 (2008)
  • Author(s): 中西啓、大坪正史、岩崎聡、姜洪仁、堀田喜裕、水田邦博、峯田周幸
  • Organizer: 日本人類遺伝学会
  • Place of Presentation: パシフィコ横浜
• [Patent(Industrial Property Rights)] ヒトUSH2A突然変異体 (2009)
  • Inventor(s): 中西啓
  • Industrial Property Rights Holder: 中西啓
  • Filing Date: 2009-07-23
• [Patent(Industrial Property Rights)] ヒトUSH2A突然変異体 (2009)
  • Inventor(s): 中西啓
  • Industrial Property Rights Holder: 中西啓
  • Industrial Property Number: 2009-172503
  • Filing Date: 2009-07-23