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Analysis of gene mutations causing primary ciliary dyskinesia by whole exome sequencing

Research Project

Project/Area Number 16K11210
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Otorhinolaryngology
Research InstitutionMie University

Principal Investigator

Takeuchi Kazuhiko  三重大学, 医学系研究科, 教授 (50206942)

Co-Investigator(Kenkyū-buntansha) 北野 雅子  三重大学, 医学部附属病院, 助教 (20378334)
藤澤 隆夫  独立行政法人国立病院機構三重病院(臨床研究部), 独立行政法人国立病院機構三重病院, 院長 (20511140)
中谷 中  三重大学, 医学部附属病院, 教授 (80237304)
Research Collaborator OGAWA Satoru  
Project Period (FY) 2016-04-01 – 2019-03-31
Project Status Completed (Fiscal Year 2018)
Budget Amount *help
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2017: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Keywords線毛 / 遺伝子変異 / 電子顕微鏡 / 一酸化窒素 / 常染色体劣性遺伝 / 滲出性中耳炎 / 慢性副鼻腔炎 / 気管支拡張症 / パネル / 遺伝子解析 / エクソーム解析
Outline of Final Research Achievements

We started gene mutation analysis by the whole exome sequencing, but we switched to gene panel analysis for 32 known genes, considering the efficiency of the analysis. We analyzed 93 patients (three months-64 years old) who were suspected of primary ciliary dyskinesia (PCD). As a result, the following mutations were found. c.894C>G, c.1599_1600insT, c.1631C>T, c.5297C>T, c.5367delT, c.5563_5564insA, c.5983C>T. c.6053T>C, c.7550_7556delAGCTGCC, c.7561_7573delCCAGCGGGGCCC, c.9018C>T, c. 9101delG, c.10616G>A, c.13286G>A , c.13837delG, c.9286C>T in DNAH5. c.940T>A, c.794G>A, c.1148G>A, c.2874A>C, c.9674T>G, c. 10353+1G>A, c.10411G>A, c.12310C>T, c. 12331C>T in DNAH11. Thus, it was found that mutations in DNAH5 and DNAH11 are prevalent in the Japanese patients with PCD.

Academic Significance and Societal Importance of the Research Achievements

原発性線毛運動不全症は常染色体劣性遺伝する疾患で、診断が困難であり、多くの患者は診断がなされていない。これは、診断に電子顕微鏡による線毛の形態の観察と遺伝子検査による複合ヘテロあるいはホモの変異を証明することが必要であるからである。今回臨床的に本症が疑われる患者93名(3カ月~64歳)患者について、変異を検討し、 DNAH5(16変異)、DNAH11(9変異)、CCDC40(2変異)、DNAI1とRSPH4A(それぞれ1変異)に病的変異があることが判明した。これにより本邦における本疾患の原因遺伝子変異が明らかになり、今後、本症の診断が進むと考えられる。

Report

(4 results)
  • 2018 Annual Research Report   Final Research Report ( PDF )
  • 2017 Research-status Report
  • 2016 Research-status Report
  • Research Products

    (15 results)

All 2019 2018 2017 2016

All Journal Article (6 results) (of which Peer Reviewed: 5 results,  Open Access: 3 results,  Acknowledgement Compliant: 1 results) Presentation (8 results) (of which Int'l Joint Research: 1 results,  Invited: 1 results) Book (1 results)

  • [Journal Article] How to Make a Correct Diagnosis of Primary Ciliary Dyskinesia2019

    • Author(s)
      竹内万彦
    • Journal Title

      Practica Oto-Rhino-Laryngologica

      Volume: 112 Issue: 2 Pages: 73-82

    • DOI

      10.5631/jibirin.112.73

    • NAID

      130007587681

    • ISSN
      0032-6313, 1884-4545
    • Related Report
      2018 Annual Research Report
  • [Journal Article] A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.2018

    • Author(s)
      Takeuchi K, Kitano M, Kiyotoshi H, Ikegami K, Ogawa S, Ikejiri M, Nagao M, Fujisawa T, Nakatani K.
    • Journal Title

      Auris Nasus Larynx.

      Volume: 45 Issue: 3 Pages: 585-591

    • DOI

      10.1016/j.anl.2017.09.007

    • Related Report
      2018 Annual Research Report 2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Analysis of Otologic Features of Patients With Primary Ciliary Dyskinesia.2017

    • Author(s)
      Takeuchi K, Kitano M, Sakaida H, Usui S, Masuda S, Ogawa S, Ikejiri M, Nagao M, Fujisawa T, Nakatani K.
    • Journal Title

      Otol Neurotol

      Volume: 38 Issue: 10 Pages: e451-e456

    • DOI

      10.1097/mao.0000000000001599

    • Related Report
      2017 Research-status Report
    • Peer Reviewed
  • [Journal Article] Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia.2016

    • Author(s)
      Gen Kano, Hisashi Tsujii, Kazuhiko Takeuchi, Kaname Nakatani, Makoto Ikejiri, Satoru Ogawa, Hisami Kubo, Mizuho Nagao, and Takao Fujisawa
    • Journal Title

      Molecular Medicine Reports

      Volume: 14 Issue: 6 Pages: 5077-5083

    • DOI

      10.3892/mmr.2016.5871

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Recent advances in primary ciliary dyskinesia2016

    • Author(s)
      Takeuchi K, Kitano M, Ishinaga H, Kobayashi M, Ogawa S, Nakatani K, Masuda S, Nagao M, Fujisawa T
    • Journal Title

      Auris Nasus Larynx

      Volume: 43 Issue: 3 Pages: 229-236

    • DOI

      10.1016/j.anl.2015.09.012

    • NAID

      130004553869

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Primary ciliary dyskinesia with complex abnormalities including cleavage of B-subfiber.2016

    • Author(s)
      Orimo K, Kondo M, Arimura K, Takeyama K, Takeuchi K, Tamaoki J.
    • Journal Title

      Respirol Case Rep

      Volume: 4 Issue: 2

    • DOI

      10.1002/rcr2.150

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] DNAH11 の変異によると考えられた原発性線毛運動不全症の2症例2019

    • Author(s)
      松田恭典、竹内万彦
    • Organizer
      第120回日本耳鼻咽喉科学会
    • Related Report
      2018 Annual Research Report
  • [Presentation] 次世代シーケンサーを用いた原発性線毛運動不全症の遺伝子診断2018

    • Author(s)
      竹内 万彦
    • Organizer
      第70回日本気管食道科学会
    • Related Report
      2018 Annual Research Report
  • [Presentation] 遺伝子パネルを用いた原発性線毛運動不全症の遺伝子診断2018

    • Author(s)
      竹内万彦、北野雅子、藤澤隆夫、小川 覚、池尻 誠、中谷 中
    • Organizer
      第25回日本遺伝子診療学会大会
    • Related Report
      2018 Annual Research Report
  • [Presentation] 遺伝子パネルによる原発性線毛運動不全症の遺伝子変異の解析2018

    • Author(s)
      竹内万彦
    • Organizer
      第13回日本小児耳鼻咽喉科学会
    • Related Report
      2018 Annual Research Report
  • [Presentation] 原発性線毛運動不全症ー診断のヒントー2017

    • Author(s)
      竹内万彦
    • Organizer
      第12回日本小児耳鼻咽喉科学会
    • Related Report
      2017 Research-status Report
    • Invited
  • [Presentation] 次世代シーケンサーを用いた遺伝子パネルによる原発性線毛運動不全症の診断2017

    • Author(s)
      竹内万彦 北野雅子
    • Organizer
      第118回 日本耳鼻咽喉科学会
    • Related Report
      2017 Research-status Report
  • [Presentation] Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel in Japanese Patients2016

    • Author(s)
      Kazuhiko Takeuchi, Kaname Nakatani, Makoto Ikejiri, Satoru Ogawa, Mizuho Nagao, Takao Fujisawa, Koji Ikegami
    • Organizer
      The 28th CDB Meeting,Cilia and Centrosomes
    • Place of Presentation
      理化学研究所(兵庫県・神戸市)
    • Year and Date
      2016-11-27
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] 遺伝子診断パネルによる原発性線毛運動不全症の診断2016

    • Author(s)
      竹内万彦、北野雅子
    • Organizer
      日本鼻科学会
    • Place of Presentation
      栃木県総合文化センター(栃木県・宇都宮市)
    • Year and Date
      2016-10-16
    • Related Report
      2016 Research-status Report
  • [Book] 嚢胞性線維症の診療の手引き(改訂2版)2018

    • Author(s)
      竹山宜典、(中略)竹内万彦、他
    • Total Pages
      125
    • Publisher
      名古屋大学消費生活協同組合 印刷部
    • ISBN
      9784909602008
    • Related Report
      2018 Annual Research Report 2017 Research-status Report

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Published: 2016-04-21   Modified: 2020-03-30  

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