Establishment of a simple but accurate method for genetic diagnosis of Usher syndrome and other hearing disorders by using cDNA synthesized from hair roots

• Project/Area Number: 22791589
• 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 浜松医科大学, 医学部・附属病院, その他 (20444359)
• Project Period (FY): 2010 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000); Fiscal Year 2011: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000); Fiscal Year 2010: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
• Keywords: 遺伝子 / 網膜色素変性症 / 感音難聴 / アッシャー症候群 / 毛根

Research Abstract

We used hair roots as a source of mRNA of Usher syndrome(USH)-causing genes, and successfully detected expression of mRNA of 7 genes by using RT-PCR analysis. This result indicates that cDNA synthesized from hair roots is a possible tool for the mutation analysis of USH-causing genes. We performed mutation analysis by using the method, and revealed probable pathogenic mutations in 4 of 5 USH type 1 and in 7 of 9 USH type 2 patients. The result that most of the mutations identified are novel suggests that the mutation spectrum of Japanese patients is different from that of Caucasian patients.

Research Products

• [Journal Article] Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population (2012)
  • Author(s): Hosono K, Ishigami C, Takahashi M, Park DH, Hirami Y, Nakanishi H, Ueno S, Yokoi T, Hikoya A, Fujita T, Zhao Y, Nishina S, Shin JP, Kim IT, Yamamoto S, Azuma N, Terasaki H, Sate M, Kondo M, Minoshima S, Hotta Y.
  • Journal Title: PLoS One Volume: 7
  • Peer Reviewed
• [Journal Article] Novel USH2A mutations in Japanese Usher syndrome type 2 patients : marked differences in the mutation spectrum between the Japanese and other populations (2011)
  • Author(s): ONakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Usami S, Mizuta K, Mineta H, Minoshima S.
  • Journal Title: J Hum Genet Volume: 56 Pages: 484-490
  • NAID: 10030659974
  • Peer Reviewed
• [Journal Article] Hereditary isolated ossicular anomalies in two generations of patients (2011)
  • Author(s): Nakanishi H, Mizuta K, Hamada N, Iwasaki S, Mineta H.
  • Journal Title: Auris Nasus Larynx Volume: 38 Pages: 114-118
  • Peer Reviewed
• [Journal Article] MRSA悪性外耳道炎症例 (2011)
  • Author(s): 中西啓, 水田邦博, 大和谷崇, 高橋吾郎, 峯田周幸
  • Journal Title: 耳喉頭頚 Volume: 83 Pages: 669-674
  • Peer Reviewed
• [Journal Article] 手術的加療を施行した悪性外耳道炎の2例 (2011)
  • Author(s): 中西啓, 水田邦博, 大和谷崇, 橋本泰幸, 姜洪仁, 浜田登, 渡邉高広, 峯田周幸
  • Journal Title: 耳鼻臨床 Volume: 104 Pages: 491-498
  • Peer Reviewed
• [Journal Article] 当院における耳管開放症例の検討 (2011)
  • Author(s): 中西啓, 水田邦博, 大和谷崇, 峯田周幸
  • Journal Title: Otol Jpn Volume: 21 Pages: 136-142
  • NAID: 10029699491
  • Peer Reviewed
• [Journal Article] 中耳手術と耳管開放症 (2011)
  • Author(s): 中西啓, 水田邦博, 峯田周幸
  • Journal Title: JHONS Volume: 27 Pages: 807-811
  • Peer Reviewed
• [Journal Article] 網膜色素変性症とUsher症候群の遺伝子診断 (2011)
  • Author(s): 堀田喜裕, 中西啓
  • Journal Title: J Eye Volume: 28 Pages: 907-912
• [Journal Article] 当科における小児先天性中耳真珠腫手術例の臨床的検討 (2011)
  • Author(s): 大和谷崇, 水田邦博, 中西啓, 姜洪仁, 橋本泰幸, 星野知之, 峯田周幸
  • Journal Title: Otol Jpn Volume: 21 Pages: 212-216
  • NAID: 10030285053
  • Peer Reviewed
• [Journal Article] Novel USH2A mutations in Japanese Usher syndrome type 2 patients : marked differences in the mutation spectrum between the Japanese and other populations (2011)
  • Author(s): 中西啓
  • Journal Title: Journal of Human Genetics Volume: 56 Issue: 7 Pages: 484-490
  • DOI: 10.1038/jhg.2011.45
  • NAID: 10030659974
  • Peer Reviewed
• [Journal Article] Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1 (2010)
  • Author(s): Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Takizawa Y, Hosono K, Mizuta K, Mineta H, Minoshima S.
  • Journal Title: J Hum Genet Volume: 55 Pages: 796-800
  • NAID: 10030737862
  • Peer Reviewed
• [Journal Article] Hair roots as an mRNA source for mutation analysis of Usher syndrome? causing genes (2010)
  • Author(s): Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Mizuta K, Mineta H, Minoshima S.
  • Journal Title: J Hum Genet Volume: 55 Pages: 701-703
  • NAID: 10030737349
  • Peer Reviewed
• [Journal Article] Specific localization of five phosphatidylcholine species in the cochlea by mass microscopy (2010)
  • Author(s): Takizawa Y, Mizuta K, Hayakawa T, Nakanishi H, Okamura J, Mineta H, Setou M.
  • Journal Title: Audiol Neurootol Volume: 16 Pages: 315-322
  • Peer Reviewed
• [Journal Article] Ultrastructural localization of cochlin in the rat cochlear duct (2010)
  • Author(s): Hosokawa S, Mizuta K, Nakanishi H, Hashimoto Y, Arai M, Mineta H, Shindo S, Ikezono T.
  • Journal Title: Audiol Neurootol Volume: 15 Pages: 247-253
  • Peer Reviewed
• [Journal Article] 耳管開放症の治療経験 (2010)
  • Author(s): 水田邦博, 中西啓
  • Journal Title: 耳鼻臨床 Volume: 103 Pages: 702-703
  • NAID: 10026492903
  • Peer Reviewed
• [Journal Article] 埋め込み型骨導補聴器BAHAの長期経過によるトラブルの検討 (2010)
  • Author(s): 岩崎聡, 工穣, 茂木英明, 中西啓, 峯田周幸, 宇佐美真一
  • Journal Title: Otol Jpn Volume: 20 Pages: 721-726
  • NAID: 10027852186
  • Peer Reviewed
• [Journal Article] BAHA両耳装用の1症例有効性の評価 (2010)
  • Author(s): 岩崎聡, 中西啓, 姜洪仁, 水田邦博
  • Journal Title: 耳喉頭頸 Volume: 82 Pages: 475-478
  • Peer Reviewed
• [Journal Article] 手術を要する補聴器(人工中耳・BAHA)と人工内耳と補聴器の併用 (2010)
  • Author(s): 岩崎聡, 中西啓
  • Journal Title: ENTONI Volume: 115 Pages: 44-50
• [Journal Article] Hair roots as an mRNA source for mutation analysis of Usher syndrom e-causing genes (2010)
  • Author(s): 中西啓
  • Journal Title: Journal of Human Genetics Volume: 55 Pages: 701-703
  • Peer Reviewed
• [Journal Article] Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1 (2010)
  • Author(s): 中西啓
  • Journal Title: Journal of Human Genetics Volume: 55 Pages: 796-800
  • NAID: 10030737862
  • Peer Reviewed
• [Journal Article] 内耳開窓術にて良好な術後聴力を得た先天性卵円窓欠損例
  • Author(s): 中西啓, 水田邦博, 大和谷崇, 峯田周幸
  • Journal Title: Otol Jpn
  • NAID: 10030646776
  • Peer Reviewed
• [Presentation] 本邦アッシャー症候群タイプ2患者における変異スペクトラムの検討 (2011)
  • Author(s): 中西啓、大和谷崇、瀧澤義徳、泉智沙子、岩崎聡、宇佐美真一、水田邦博、峯田周幸
  • Organizer: 第21回日本耳科学会総会・学術講演会
  • Place of Presentation: 沖縄コンベンションセンター
  • Year and Date: 2011-11-24
• [Presentation] 本邦アッシャー症候群タイプ2患者における変異スペクトラムの検討 (2011)
  • Author(s): 中西啓
  • Organizer: 第21回日本耳科学会総会・学術講演会
  • Place of Presentation: 沖縄コンベンションセンター(沖縄県)
  • Year and Date: 2011-11-24
• [Presentation] 本邦アッシャー症候群タイプ2患者における変異スペクトラムの検討 (2011)
  • Author(s): 中西啓、大坪正史、岩崎聡、堀田喜裕、宇佐美真一、水田邦博、峯田周幸、蓑島伸生
  • Organizer: 第56回日本人類遺伝学会・第11回東アジア人類遺伝学会
  • Place of Presentation: 幕張メッセ
  • Year and Date: 2011-11-12
• [Presentation] 本邦アッシャー症候群タイプ2患者における変異スペクトラムの検討 (2011)
  • Author(s): 中西啓
  • Organizer: 第56回日本人類遺伝学会・第11回東アジア人類遺伝学会
  • Place of Presentation: 幕張メッセ(千葉県)
  • Year and Date: 2011-11-12
• [Presentation] Mutation analysis of the MY07A and CDH23 genes in Japanese patients with Usher syndrome type 1 (2011)
  • Author(s): Nakanishi H, Ohtsubo M, Iwasaki S, Hotta Y, Takizawa Y, Hosono K, Mizuta K, Mineta H, Minoshima S.
  • Organizer: Thirty-fourth annual mid-winter research meeting of the association for research of otolaryngology
  • Place of Presentation: Baltimore, ME, USA
• [Presentation] Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1 (2011)
  • Author(s): Hiroshi Nakanishi
  • Organizer: Association for Research in Otolaryngology
  • Place of Presentation: Baltimore, MD, USA
• [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:本邦におけるアッシャー症候群の遺伝子解析 (2010)
  • 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: 第2回浜松医科学シンポジウム
  • Place of Presentation: 浜松医科大学
  • Year and Date: 2010-12-17
• [Presentation] 当院における耳管開放症例の検討 (2010)
  • Author(s): 中西啓、水田邦博、大和谷崇、姜洪仁、橋本泰幸
  • Organizer: 第20回日本耳科学会総会・学術講演会
  • Place of Presentation: ひめぎんホール
  • Year and Date: 2010-10-08
• [Book] 遅発性内リンパ水腫 (2010)
  • Author(s): 岩崎聡,中西啓
  • Publisher: 永井書店