the pathophysiology of hearing loss caused by digenic inheritance of heterozygous mutations in the GJB2 and GJB6

2009 Fiscal Year Self-evaluation Report

• Project/Area Number: 19791195
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Single-year Grants
• Research Field: Otorhinolaryngology
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: ITO Taku Tokyo Medical and Dental University, 大学院・医歯学総合研究科, 助教 (40401400)
• Project Period (FY): 2007 – 2010
• Keywords: 耳鼻咽喉学 / 遺伝性難聴 / 難聴遺伝子

Research Abstract

日本人において、ヘテロ接合のGJB2変異とGJB6の欠失(Δ(GJB6-D13S1830)またはΔ(GJB6-D13S1854)による複合遺伝子座の異常による難聴の有無、頻度について検討する。

Research Products

• [Journal Article] Hereditary Hearing Loss and Deafness Genes in Japan. (2010)
  • Author(s): Ito Taku, Noguchi Yoshihiro, Yashima Takatoshi, Ohno Kazuchika, Kitamura Ken
  • Journal Title: J Med Dent Sci 57 Pages: 1-10
  • Peer Reviewed
• [Journal Article] Novel ATP6V1B1 mutations in distal renal tubular acidosis and hearing loss (2010)
  • Author(s): Yashima Takatoshi, Noguchi Yoshihiro, Kawashima Yoshiyuki, Rai T, Ito T, Kitamura K
  • Journal Title: Acta Otolaryngol
  • Peer Reviewed
• [Journal Article] Extensive and rapid screening for major mitochondrial DNA point mutations in patients with hereditary hearing loss. (2010)
  • Author(s): Kato Tomofumi, Nishigaki Yutaka, Noguchi Yoshihiro, Ueno Hitomi, Hosoya Hiroko, Ito Taku, Kimura Yurika, Kitamura Ken, Tanaka Masashi
  • Journal Title: J Hum Genet 55 Pages: 147-154
  • Peer Reviewed
• [Journal Article] Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies. (2010)
  • Author(s): Fujikawa Taro, Noguchi Yoshihiro, Ito Taku, Takahashi Masatoki, Kitamura Ken
  • Journal Title: Laryngoscope 120 Pages: 166-171
  • Peer Reviewed
• [Journal Article] 特発性両側性感音難聴の検討孤 発例と家族例の違い (2010)
  • Author(s): 伊藤卓, 野口佳裕, 大野十央, 喜多村健
  • Journal Title: Audiology Japan 53 Pages: 150-157
  • Peer Reviewed