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Comprehensive genetic analysis of unclassified Inherited bone marrow failure syndrome

Research Project

Project/Area Number 20K16887
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 52050:Embryonic medicine and pediatrics-related
Research InstitutionNagoya City University (2022)
Nagoya University (2020-2021)

Principal Investigator

Hamada Motoharu  名古屋市立大学, 医薬学総合研究院(医学), 講師 (60845171)

Project Period (FY) 2020-04-01 – 2023-03-31
Project Status Completed (Fiscal Year 2022)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2022: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2021: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2020: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Keywords遺伝性骨髄不全症候群 / 全エクソン解析 / AMeD症候群 / トリオ解析 / 小児科 / 小児 / 次世代シーケンサー
Outline of Research at the Start

稀少疾患である遺伝性骨髄不全症候群は臨床所見のみによる診断は困難であり、その診断及び治療方針決定に難渋することが少なくない。正確な診断が得られていない症例も多く、成人期に至ってから診断される例も少なくない。本研究では、原因遺伝子が特定されていない遺伝性骨髄不全症候群患者およびその両親から採取された検体(主に血液)を用いて網羅的遺伝子解析を行い、新規の原因遺伝子を特定することを目的とする。これにより、より多くの遺伝性骨髄不全症候群患者で適切な遺伝子診断が得られ、疾患や遺伝学的特徴に基づいた治療方針及び長期的なフォローアップが可能となることが期待できる。

Outline of Final Research Achievements

Inherited bone marrow failure syndrome (IBMFS) is an inherited disorder with a poor prognosis, but in over half of cases the causative gene is unknown. In this study of IBMFS with unknown causative genes, a comprehensive genetic analysis (whole exon analysis) of patients and their parents was performed to identify the causative gene and obtain a genetic diagnosis, as well as to identify new causative genes. Thirty-seven families were analyzed, and in 11 cases (28%) the causative gene could be identified. One of these cases was diagnosed with AMeD syndrome, a new form of IBMFS. This study suggests the importance of genetic analysis of IBMFS and contributes to understanding the pathogenesis of the disease.

Academic Significance and Societal Importance of the Research Achievements

本研究により、疾患の発端者(患者)のみでなく両親の遺伝子解析を行うことで、IBMFSの遺伝子診断効率が向上することが示された。遺伝子パネル検査や発端者の網羅的遺伝子解析でも原因遺伝子が特定されない場合は、両親検体の解析を積極的に検討することが重要である。これにより、正確な遺伝子診断に基づく適切な医療的介入が可能となる。また、遺伝性骨髄不全症候群の新たな病型であるAMeD症候群の発見により、IBMFSの原因となる新たな病態が解明された。

Report

(4 results)
  • 2022 Annual Research Report   Final Research Report ( PDF )
  • 2021 Research-status Report
  • 2020 Research-status Report
  • Research Products

    (6 results)

All 2023 2021 2020

All Journal Article (2 results) (of which Peer Reviewed: 1 results,  Open Access: 1 results) Presentation (3 results) (of which Int'l Joint Research: 1 results,  Invited: 1 results) Book (1 results)

  • [Journal Article] Germline and somatic RUNX1 variants in a pediatric bone marrow failure cohort2023

    • Author(s)
      Yamamori Ayako, Hamada Motoharu, Muramatsu Hideki, Wakamatsu Manabu, Hama Asahito, Narita Atsushi, Tsumura Yusuke, Yoshida Taro, Doi Takehiko, Terada Kazuki, Higa Takeshi, Yamamoto Nobuyuki, Miura Hiroki, Shiota Mitsutaka, et al.
    • Journal Title

      American Journal of Hematology

      Volume: - Issue: 5

    • DOI

      10.1002/ajh.26874

    • Related Report
      2022 Annual Research Report
  • [Journal Article] Clinical diagnostic value of telomere length measurement in inherited bone marrow failure syndromes2021

    • Author(s)
      Miwata Shunsuke、Narita Atsushi、Okuno Yusuke、Suzuki Kyogo、Hamada Motoharu、Yoshida Taro、Imaya Masayuki、Yamamori Ayako、Wakamatsu Manabu、Narita Kotaro、Kitazawa Hironobu、Ichikawa Daisuke、Taniguchi Rieko、Kawashima Nozomu、Nishikawa Eri、Nishio Nobuhiro、Kojima Seiji、Muramatsu Hideki、Takahashi Yoshiyuki
    • Journal Title

      Haematologica

      Volume: 106 Issue: 9 Pages: 2511-2515

    • DOI

      10.3324/haematol.2021.278334

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] 骨髄不全症領域における最近の進歩(Genetic diagnosis process for inherited bone marrow failure syndrome)2021

    • Author(s)
      村松 秀城
    • Organizer
      日本血液学会学術集会
    • Related Report
      2021 Research-status Report
    • Invited
  • [Presentation] Diagnostic whole exome sequencing for 166 patients with inherited bone marrow failure syndrome2020

    • Author(s)
      濱田 太立
    • Organizer
      The 62nd ASH Annual Meeting
    • Related Report
      2020 Research-status Report
    • Int'l Joint Research
  • [Presentation] Diagnostic whole-exome sequencing for 166 patients with inherited bone marrow failure syndrome2020

    • Author(s)
      濱田 太立
    • Organizer
      第82回日本血液学会学術集会
    • Related Report
      2020 Research-status Report
  • [Book] 原発性免疫不全症候群2020

    • Author(s)
      濱田 太立
    • Total Pages
      16
    • Publisher
      日本臨牀社
    • Related Report
      2020 Research-status Report

URL: 

Published: 2020-04-28   Modified: 2024-01-30  

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