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The role of imprinting control region in regulating imprinting status in 15q11-13 among patients with Prader-Willi syndrome

Research Project

Project/Area Number 25860898
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Pediatrics
Research InstitutionNational Research Institute for Child Health and Development

Principal Investigator

MATSUBARA KEIKO  独立行政法人国立成育医療研究センター, その他部局等, 研究員 (90542952)

Project Period (FY) 2013-04-01 – 2015-03-31
Project Status Completed (Fiscal Year 2014)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2014: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2013: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
KeywordsPrader-Willi症候群 / インプリンティング異常症 / DNAメチル化 / エピ変異 / プラダーウィリ症候群 / DNAメチル化 / インプリンティング / Prader Willi症候群 / 遺伝学 / 先天異常
Outline of Final Research Achievements

We performed analysis of endocrinological information and molecular genetic tests on patients with Prader-Willi syndrome (PWS). For molecular analyses, we also utilized samples taken from patients with Angelman syndrome (AS).
First, we performed insulin tolerant test to clarify the feature of hypothalamus, pituitary and adrenal gland axis of PWS patients. Although basal and peak values of ACTH and cortisol were within normal range, cortisol showed prolonged secretion pattern. Secondly, we performed genome wide methylation analysis to reveal DNA methylation pattern among the PWS patients with epimutation or atypical tiny deletion involving PWS-SRO (shortest region of overlapping) and AS-SRO in imprinting control region, and revealed detailed pattern of DNA methylation in 15q11-13 of these patients.Lastly, we detected one patient with Temple syndrome among patients without any of known causes resulting in PWS phenotype.

Report

(3 results)
  • 2014 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • Research Products

    (21 results)

All 2014 2013

All Journal Article (8 results) (of which Peer Reviewed: 8 results,  Open Access: 4 results,  Acknowledgement Compliant: 2 results) Presentation (13 results) (of which Invited: 2 results)

  • [Journal Article] Uniparental disomy of chromosome 8 leading to homozygosity of a <i>CYP11B1</i> mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder2014

    • Author(s)
      K. Matsubara, N. Kataoka, S. Ogita, S. Sano, T. Ogata, M. Fukami and N. Katsumata
    • Journal Title

      Endocrine Journal

      Volume: 61 Issue: 6 Pages: 629-633

    • DOI

      10.1507/endocrj.EJ13-0509

    • NAID

      130004770452

    • ISSN
      0918-8959, 1348-4540
    • Related Report
      2014 Annual Research Report 2013 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions (DMRs) to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations2014

    • Author(s)
      Maeda T, Higashimoto K, Jozaki K, Hitomi H, Nakabayashi K, Makita Y, Tonoki H, Okamoto N, Takada F, Ohashi H, Migita M, Kosaki R, Matsubara K, Ogata T, Matsuo M, Hamasaki Y, Ohtsuka Y, Nishioka K, Joh K, Mukai T, Hata K, Soejima H
    • Journal Title

      Genet Med

      Volume: 16(12) Issue: 12 Pages: 903-912

    • DOI

      10.1038/gim.2014.46

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell syndrome-compatible phenotype2014

    • Author(s)
      Kagami M, Mizuno S, Matsubars K, Nakabayashi K, Sano S, Fuke T, Fukami M, Ogata T
    • Journal Title

      Eur J Hum Genet

      Volume: 11 Issue: 8 Pages: 1-6

    • DOI

      10.1038/ejhg.2014.234

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Journal Article] Abnormalities in chromosome 6q24 as a cause of early-onset, non-obese, non-autoimmune diabetes mellitus without history of neonatal diabetes.2014

    • Author(s)
      Yorifuji T, Matsubara K, Sakakibara A, Hashimoto Y, Kawakita R, Hosokawa Y, Fujimaru R, Murakami A, Tamagawa N, Hatake K, Nagasaka H, Suzuki J, Urakami T, Izawa M, Kagami M.
    • Journal Title

      Diabet Med.

      Volume: ? Issue: 7 Pages: 963-967

    • DOI

      10.1111/dme.12758

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A novel de novo point mutation of OCT-binding site in the IGF2/H19-imprinting control region in a patient with Beckwith-Wiedemann syndrome.2013

    • Author(s)
      Higashimoto K, Jozaki K, Kosho T, Matsubara K, Sato T, Yamada D, Yatsuki H, Maeda T, Ohtsuka Y, Nishioka K, Joh K, Koseki H, Ogata T, SoejimaH*
    • Journal Title

      Clin Genet

      Volume: in press Issue: 6 Pages: 539-544

    • DOI

      10.1111/cge.12318

    • Related Report
      2014 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion.2013

    • Author(s)
      Ayabe T, Matsubara K, Ogata T, Ayabe A, Murakami N, Nagai T, Fukami M*
    • Journal Title

      Am J Med Genet A

      Volume: 161 Issue: 6 Pages: 1495-1497

    • DOI

      10.1002/ajmg.a.35893

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome2013

    • Author(s)
      T. Fuke, S. Mizuno, T. Nagai, T. Hasegawa, R. Horikawa, Y. Miyoshi, K. Muroya, T. Kondoh, C. Numakura, S. Sato, K. Nakabayashi, C. Tayama, K. Hata, S. Sano, K. Matsubara, M. Kagami, K. Yamazawa, T. Ogata
    • Journal Title

      PLoS. One

      Volume: 8 Issue: 3 Pages: e60105-e60105

    • DOI

      10.1371/journal.pone.0060105

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Journal Article] Advanced maternal age at childbirth and the development of uniparental disomy. A commentary on the proportion of uniparental disomy is increased in Prader-Willi syndrome due to an advanced maternal childbearing age in Korea.2013

    • Author(s)
      Matsubara K, Ogata T*
    • Journal Title

      J Hum Genet

      Volume: 58 Issue: 3 Pages: 118-119

    • DOI

      10.1038/jhg.2013.4

    • NAID

      10031164067

    • Related Report
      2013 Research-status Report
    • Peer Reviewed
  • [Presentation] PWS/AS責任領域の非典型的な欠失を有する症例に対する網羅的メチル解析2014

    • Author(s)
      松原圭子、伊藤順庸、中林一彦、佐野伸一朗、中村明枝、秦健一郎、緒方勤、深見真紀、斎藤伸治、鏡雅代
    • Organizer
      第59回人類遺伝学会
    • Place of Presentation
      東京
    • Year and Date
      2014-11-19 – 2014-11-22
    • Related Report
      2014 Annual Research Report
  • [Presentation] 新生児・乳児期に成長障害および筋緊張低下を示すインプリンティング異常症2014

    • Author(s)
      松原圭子、水野誠司、鏡雅代
    • Organizer
      第59回 日本未熟児新生児学会
    • Place of Presentation
      愛媛
    • Year and Date
      2014-11-10 – 2014-11-12
    • Related Report
      2014 Annual Research Report
  • [Presentation] Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia2014

    • Author(s)
      Keiko Matsubara, Naoki Kataoka, Satoko Ogita, Shinichiro Sano,Tsutomu Ogata, Maki Fukami, Noriyuki Katsumata
    • Organizer
      第48回小児内分泌学会
    • Place of Presentation
      浜松
    • Year and Date
      2014-09-25 – 2014-09-27
    • Related Report
      2014 Annual Research Report
  • [Presentation] PWS/AS責任領域の非典型的な欠失を有する症例に対する網羅的メチル解析2014

    • Author(s)
      松原圭子、伊藤順庸、中林一彦、佐野伸一朗、中村明枝、秦健一郎、緒方勤、深見真紀、斎藤伸治、鏡雅代
    • Organizer
      第48回小児内分泌学会
    • Place of Presentation
      浜松
    • Year and Date
      2014-09-25 – 2014-09-27
    • Related Report
      2014 Annual Research Report
  • [Presentation] 15番染色体インプリンティング調節領域欠失症例の網羅的メチル化解析2014

    • Author(s)
      松原圭子、伊藤順庸、中林一彦、佐野伸一朗、中村明枝、秦健一郎、緒方勤、深見真紀、斎藤伸治、鏡雅代
    • Organizer
      第8回エピジェネティクス研究会
    • Place of Presentation
      東京
    • Year and Date
      2014-05-25 – 2014-05-27
    • Related Report
      2014 Annual Research Report
  • [Presentation] Comprehensive analysis for 567 patients with clinical features of human imprinting disorders.2014

    • Author(s)
      Keiko Matsubara, Tomoko Fuke, Shinichiro Sano, Kazuhiko Nakabayashi, Kenichiro Hata, Tsutomu Ogata, Maki Fukami, Masayo Kagami
    • Organizer
      014 PAS annual meeting
    • Place of Presentation
      Vancouver
    • Year and Date
      2014-05-03 – 2014-05-06
    • Related Report
      2014 Annual Research Report
    • Invited
  • [Presentation] 15番染色体インプリンティング調節領域欠失症例の網羅的メチル化解析2014

    • Author(s)
      松原圭子、伊藤順庸、中林一彦、佐野伸一朗、中村明枝、秦健一郎、緒方勤、深見真紀、斎藤伸治、鏡雅代
    • Organizer
      第37回日本小児遺伝学会学術集会
    • Place of Presentation
      名古屋
    • Year and Date
      2014-04-10
    • Related Report
      2014 Annual Research Report
  • [Presentation] 生殖補助医療と片親性ダイソミー発症リスク,Risk assessment of ART and its related factors in the development of UPD2013

    • Author(s)
      松原圭子、福家智子、鏡雅代、深見真紀、永井敏郎、緒方勤
    • Organizer
      第116回小児科学会
    • Place of Presentation
      広島
    • Related Report
      2013 Research-status Report
    • Invited
  • [Presentation] Prader-Willi症候群患者における副腎機能2013

    • Author(s)
      松原圭子、白石昌久、村上信行、土屋貴義、大戸祐二、深見真紀、永井敏郎
    • Organizer
      第116回小児科学会
    • Place of Presentation
      広島
    • Related Report
      2013 Research-status Report
  • [Presentation] Assessment of adrenal function in patients with Prader-Willi syndrome.2013

    • Author(s)
      Matsubara Keiko, Shiraishi Masahisa, Murakami Nobuyuki, Tsuchiya Takayoshi, Oto Yuji, Kagami Masayo, Fukami Maki, Ogata Tsutomu, Nagai Toshiro
    • Organizer
      International Prader-WIlli syndrome organization
    • Place of Presentation
      Cambridge
    • Related Report
      2013 Research-status Report
  • [Presentation] Assessment of adrenal function in patients with Prader-Willi syndrome.2013

    • Author(s)
      Matsubara Keiko, Shiraishi Masahisa, Murakami Nobuyuki, Tsuchiya Takayoshi, Oto Yuji, Kagami Masayo, Fukami Maki, Ogata Tsutomu, Nagai Toshiro
    • Organizer
      European society of pediatric endoclonology
    • Place of Presentation
      Milan
    • Related Report
      2013 Research-status Report
  • [Presentation] ヒトインプリンティング異常症498症例に対する包括的解析2013

    • Author(s)
      松原圭子、福家智子、佐野伸一朗、中林一彦、秦健一郎、緒方勤、深見真紀、鏡雅代
    • Organizer
      第47回小児内分泌学会
    • Place of Presentation
      東京
    • Related Report
      2013 Research-status Report
  • [Presentation] ヒトインプリンティング異常症498症例に対する包括的解析2013

    • Author(s)
      松原圭子、福家智子、佐野伸一朗、中林一彦、秦健一郎、緒方勤、深見真紀、鏡雅代
    • Organizer
      第57回人類遺伝学会
    • Place of Presentation
      仙台
    • Related Report
      2013 Research-status Report

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Published: 2014-07-25   Modified: 2019-07-29  

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