Prevalence and clinical features of hearing loss patients with CDH23 mutations.

• Project/Area Number: 21791607
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Otorhinolaryngology
• Research Institution: Shinshu University
• Principal Investigator: WAGATSUMA Michio 信州大学, 医学部・附属病院, 特任研究員 (00419409)
• Co-Investigator(Renkei-kenkyūsha): MIYAGAWA Maiko 信州大学, 医学部・附属病院, 医員 (60467165) ; NISHIO Shin-ya 信州大学, 医学部, 助教 (70467166)
• Project Period (FY): 2009 – 2011
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000); Fiscal Year 2011: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000); Fiscal Year 2010: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000); Fiscal Year 2009: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
• Keywords: 感音難聴 / 内耳 / 遺伝性難聴 / CDH23 / 遺伝子 / スクリーニング / PCR / 家系調査

Research Abstract

CDH23 is likely to be an important cause for hearing loss patients but the prevalence of CDH23 mutation in Japanese hearing loss patient is not clear. To assess the importance of CDH23 mutations in non-syndromic hearing loss, two-step screening was applied and clinical characteristics of the patients with CDH23 mutations were examined in this study and found 26 possible pathogenic mutations.

Research Products

• [Journal Article] Patientswith CDH23 mutation and the 1555A> Gmitochondrial mutation are good candidates for electric acoustic stimulation(EAS) (2012)
  • Author(s): Usami S. Miyagawa M. Nishio S. Moteki H. Takumi Y. Suzuki M. Kitano Y. Iwasaki S
  • Journal Title: Acta Otolaryngol Volume: 132巻 Pages: 377-384
  • Peer Reviewed
• [Journal Article] 人工内耳埋め込み術を行ったCDH23遺伝子変異による難聴症例 (2012)
  • Author(s): 宮川麻衣子、茂木英明、工穣、宇佐美真一
  • Journal Title: 耳喉頭頸 Volume: 84巻 Pages: 59-63
  • Peer Reviewed
• [Journal Article] Patients with CDH23 mutation and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS) (2012)
  • Author(s): Usami S., Miyagawa M., Nishio S., Moteki H., Takumi Y., Suzuki M., Kitano Y., Iwasaki S.
  • Journal Title: Acta Otolaryngol Volume: 132 Issue: 4 Pages: 377-384
  • DOI: 10.3109/00016489.2011.649493
  • NAID: 120007110630
  • Peer Reviewed
• [Presentation] 先進医療「先天性難聴の遺伝子診断」の現状 (2011)
  • Author(s): 工穣、岩佐陽一郎、吉村豪兼、矢野卓也、内藤武彦、宮川麻衣子、茂木英明、西尾信哉、宇佐美真一
  • Organizer: 第56回日本聴覚医学会総会・学術講演会
  • Place of Presentation: 福岡
  • Year and Date: 2011-10-27
• [Remarks]
  • URL: http://www.shinshu-u.ac.jp/faculty/medicine/chair/ent/