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Molecular functional analysis of ZBTB10, the novel candidate deafness gene associated with cochlear nerve hypoplasia

Research Project

Project/Area Number 15K10773
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Otorhinolaryngology
Research Institution独立行政法人国立病院機構(東京医療センター臨床研究センター)

Principal Investigator

Mutai Hideki  独立行政法人国立病院機構(東京医療センター臨床研究センター), その他部局等, 研究員 (60415891)

Co-Investigator(Kenkyū-buntansha) 難波 一徳  独立行政法人国立病院機構(東京医療センター臨床研究センター), その他部局等, 研究員 (60425684)
Project Period (FY) 2015-04-01 – 2018-03-31
Project Status Completed (Fiscal Year 2017)
Budget Amount *help
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords内耳奇形 / 蝸牛神経 / 難聴遺伝子 / 神経芽腫細胞 / ゲノム編集 / 胎生致死
Outline of Final Research Achievements

We have identified ZBTB10 as a candidate of novel deafness gene from a patient with cochlear nerve hypoplasia using whole exome analysis. ZBTB10 appeared to be expressed in the cochlear nerve. ZBTB10 expression was increased during nerve elongation of neuroblastoma NB1 cells. Zbtb10mut/+ mouse generated by CRISPR/Cas9 showed normal hearing. Low reproduction rate and anatomical observation suggests that the gene also affect proper function of ovary. All the Zbtb10mut/mut and half the number of Zbtb10mut/+ embryos seemed to be dead by the embryonic day 14.5 (E14.5). Zbtb10 appeared to be critical for early embryogenesis. We are now conducting histochemical study focusing on development of the brain, otocyst, and primordial germ line cells at E9.5. We will accumulate, analyze the data and report the results to the public soon.

Report

(4 results)
  • 2017 Annual Research Report   Final Research Report ( PDF )
  • 2016 Research-status Report
  • 2015 Research-status Report
  • Research Products

    (23 results)

All 2018 2017 2016 2015

All Journal Article (13 results) (of which Peer Reviewed: 13 results,  Open Access: 4 results,  Acknowledgement Compliant: 3 results) Presentation (9 results) (of which Int'l Joint Research: 3 results) Book (1 results)

  • [Journal Article] High-level heteroplasmy for the m.7445A>G mitochondrial DNA mutation can cause progressive sensorineural hearing loss in infancy.2018

    • Author(s)
      Matsushima K, Nakano A, Arimoto Y, Mutai H, Yamazawa K, Murayama K, Matsunaga T.
    • Journal Title

      Intl J Ped Otorhinolaryng

      Volume: 108 Pages: 125-131

    • DOI

      10.1016/j.ijporl.2018.02.037

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Spontaneous intramural duodenal hematoma as the manifestation of Noonan syndrome.2018

    • Author(s)
      Yamazawa K, Yamada Y, Kuroda T, Mutai H, Matsunaga T, Komiyama O, Takahashi T.
    • Journal Title

      Am J Med Genet A

      Volume: 176 Issue: 2 Pages: 496-498

    • DOI

      10.1002/ajmg.a.38556

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Prevalence of TECTA mutation in patients with mid-frequency sensorineural hearing loss.2017

    • Author(s)
      Yamamoto N, Mutai H, Namba K, Morita N, Masuda S, Nishi Y, Nakano A, Masuda S, Fujioka M, Kaga K, Ogawa K, Matsunaga T.
    • Journal Title

      Orphanet J Rare Dis

      Volume: 25;12(1) Issue: 1 Pages: 157-157

    • DOI

      10.1186/s13023-017-0708-z

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Homozygous EDNRB Mutation in a Patient with Waardenburg Syndrome Type 12017

    • Author(s)
      Noriko Morimoto, Hideki Mutai, Kazunori Namba, Hiroki Kaneko, Rika Kosaki, Tatsuo Matsunaga
    • Journal Title

      Auris Nasus Larynx

      Volume: 印刷中

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] Microbiomes of The Normal Middle Ear and Chronic Otitis Media2017

    • Author(s)
      Shujiro B. Minami, Hideki Mutai, Tomoko Suzuki Arata Horii, Naoki Oishi, Koichiro Wasano, Motoyasu Katsura, Fujinobu Tanaka, Tetsuya Takiguchi, Masato Fujii, Kimitaka Kaga
    • Journal Title

      Laryngoscope

      Volume: 印刷中 Issue: 10

    • DOI

      10.1002/lary.26579

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] WFS1 and GJB2 mutations in patients with bilateral low-frequency sensorineural hearing loss2017

    • Author(s)
      Natsuko Kasakura-Kimura, Masatsugu Masuda, Hideki Mutai, Sawako Masuda, Noriko Morimoto, Noboru Ogahara, Hayato Misawa, Hirokazu Sakamoto, Koichiro Saito, Tatsuo Matsunaga
    • Journal Title

      Laryngoscope

      Volume: 印刷中 Issue: 9

    • DOI

      10.1002/lary.26528

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] Mitochondrial mutations in maternally inherited hearing loss2017

    • Author(s)
      Hideki Mutai, Takahisa Watabe, Kenjiro Kosaki, Kaoru Ogawa and Tatsuo Matsunaga
    • Journal Title

      BMC Medical Genetics

      Volume: 18 Issue: 1 Pages: 32-32

    • DOI

      10.1186/s12881-017-0389-4

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Frequency and Specific Characteristics of the Incomplete Partition Type III Inner Ear Anomaly in Children with Hearing Loss2017

    • Author(s)
      Ayako Kanno, Hideki Mutai, Kazunori Namba, Noriko Morita, Atsuko Nakano, Noboru Ogahara, Tomoko Sugiuchi, Kaoru Ogawa, Tatsuo Matsunaga
    • Journal Title

      Laryngoscope

      Volume: 印刷中 Issue: 7 Pages: 1663-1669

    • DOI

      10.1002/lary.26245

    • Related Report
      2016 Research-status Report
    • Peer Reviewed
  • [Journal Article] A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder2016

    • Author(s)
      Kenichi Takano, Noriko Ogasawara, Tatsuo Matsunaga, Hideki Mutai, Akihiro Sakurai, Aki Ishikawa, and Tetsuo Himi
    • Journal Title

      Human Genome Variation

      Volume: 3 Pages: 16023-16023

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A novel frameshift variant of COCH supports the hypothesis that haploinsufficiency is not a cause of autosomal dominant nonsyndromic deafness 92016

    • Author(s)
      Masuda M, Mutai H, Arimoto Y, Nakano A, Matsunaga T
    • Journal Title

      Biochem Biophys Res Commun.

      Volume: 469 Issue: 2 Pages: 270-274

    • DOI

      10.1016/j.bbrc.2015.11.106

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD12016

    • Author(s)
      Minami S, Mutai H, Namba M, Sakamoto H, Matsunaga T
    • Journal Title

      Auris Nasus Larynx

      Volume: S0385-8146 Issue: 6 Pages: 30065-7

    • DOI

      10.1016/j.anl.2016.02.010

    • NAID

      130005773901

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss2015

    • Author(s)
      Wasano K, Mutai H, Obuchi C, Masuda S, Matsunaga T
    • Journal Title

      Biochem Biophys Res Comm

      Volume: 463 Issue: 4 Pages: 582-586

    • DOI

      10.1016/j.bbrc.2015.05.099

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] High prevalence of CDH23 mutation in patients with congenital high-frequency recessive or sporadic hereditary hearing loss2015

    • Author(s)
      Mizutari K, Mutai H., Namba K., Miyanaga Y., Nakano A., Arimoto Y., Masuda S., Morimoto N., Sakamoto H., Kaga K., Matsunaga T.
    • Journal Title

      Orphanet Journal of Rare Diseases

      Volume: 10 Issue: 1 Pages: 60-60

    • DOI

      10.1186/s13023-015-0276-z

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] Whole Exome Sequencing to Discover Novel Genes Associated with Hearing Loss2018

    • Author(s)
      Hideki Mutai, Yukihide Momozawa, Yoichiro Kamatani, Michiaki Kubo, Tatsuo Matsunaga
    • Organizer
      41th annual midwinter meeting, Association for Research in Otolaryngology
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] Apoptosis is Associated with Decreased BDNF Signal in the Spiral Ganglion of Otof -deficient Mouse2018

    • Author(s)
      Kazunori Namba, Hideki Mutai, Tatsuo Matsunaga
    • Organizer
      41th annual midwinter meeting, Association for Research in Otolaryngology
    • Related Report
      2017 Annual Research Report
    • Int'l Joint Research
  • [Presentation] 臨床検体を用いた中耳細菌叢のメタ16S解析2017

    • Author(s)
      務台英樹、鈴木朋子、南修司郎
    • Organizer
      NGS現場の会 第5回研究会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Exome解析を用いた新規難聴原因遺伝子の探索2017

    • Author(s)
      務台英樹 松永達雄
    • Organizer
      第27回日本耳科学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 臨床像を起点とした遺伝性難聴診療の確立2017

    • Author(s)
      松永達雄、加我君孝、務台英樹、奈良清光、南修司郎、山本修子、藤岡正人、小川郁
    • Organizer
      第27回日本耳科学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] TECTA蛋白の構造解析による新規変異の分子病態予測2017

    • Author(s)
      山本修子、難波一徳、務台英樹、森田訓子、松永達雄
    • Organizer
      第27回日本耳科学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 混合難聴の進行により、人工内耳埋め込み術を施行した中耳・内耳奇形・内耳道狭窄の3症例の検討2017

    • Author(s)
      利國桂太郎、南修司郎、山本修子、和佐野浩一郎、務台英樹、松永達雄、加我君孝
    • Organizer
      第27回日本耳科学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] Microbiomes in the normal middle ear and chronic otitis media2016

    • Author(s)
      Minami S, Mutai H, Suzuki T, HoriiA, Oishi N, Katsura M, Wasano K, Tanaka F, Takiguchi T, Fujii M.
    • Organizer
      Association for Research in Otolaryngology 39th Midwiner Meeting
    • Place of Presentation
      Manchester Grand Hyatt, San Diego, CA, USA
    • Year and Date
      2016-02-20
    • Related Report
      2015 Research-status Report
    • Int'l Joint Research
  • [Presentation] Exome解析を用いた症候群性難聴に対する原因遺伝子同定の試み2015

    • Author(s)
      務台英樹、仲野敦子、有本友希子、松永達雄
    • Organizer
      第25回日本耳科学会総会
    • Place of Presentation
      長崎ブリックホール
    • Year and Date
      2015-10-07
    • Related Report
      2015 Research-status Report
  • [Book] 中耳細菌叢のメタ16S解析 in 実験医学別冊 NGSアプリケーション 今すぐ始める!メタゲノム解析 実験プロトコール 編:服部正平2016

    • Author(s)
      南修司郎、務台英樹
    • Total Pages
      229
    • Publisher
      羊土社
    • Related Report
      2016 Research-status Report

URL: 

Published: 2015-04-16   Modified: 2019-03-29  

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