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The changing frequency of genetic causes for Prader-Willi syndrome in Japan.

Research Project

Project/Area Number 22791022
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
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, 分子内分泌研究部, 研究員 (90542952)

Project Period (FY) 2010 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2011: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2010: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Keywords遺伝学 / 先天異常 / Prader-Willi症候群 / 高齢出産 / トリソミーレスキュー / 生殖補助医療
Research Abstract

We performed molecular analysis on 140 patients with Prader-Willi syndrome. Here, we report that advanced maternal age was a risk factor for the development of PWS due to upd(15) mat resulting from meiosis I error, and that relative frequency of upd(15) mat due to trisomy rescue after non-disjunction during meiosis I was increased since 2003 when advanced maternal age became obvious in Japan. We also repot that the frequency of births after ART was significantly higher in PWS patients than in the general population. These results showed that ART and/or ART-related parental factors(maternal age etc.) can be a risk factor for PWS in general.

Report

(3 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • Research Products

    (37 results)

All 2012 2011 2010 Other

All Journal Article (13 results) (of which Peer Reviewed: 6 results) Presentation (22 results) Book (2 results)

  • [Journal Article] Mosaic upd(7) mat in a patient with Silver-Russell syndrome2012

    • Author(s)
      Fuke-Sato T, Yamazawa K, Nakabayashi K, Matsubara K, Matsuoka K, Hasegawa T, Dobashi K, Ogata T
    • Journal Title

      Am J Med Genet A

      Volume: 158A(2) Pages: 465-8

    • Related Report
      2011 Final Research Report
  • [Journal Article] Relative frequency of underlying genetic causes for the development of UPD(14) pat-like phenotype2012

    • Author(s)
      Kagami M, Kato F, Matsubara K, Sato T, Nishimura G, Ogata T
    • Journal Title

      Eur J Hum Genet

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Journal Article] Mosaic upd(7)mat in a patient with Silver-Russell syndrome: correlation between phenotype and mosaic ratio in the body and the placenta.2012

    • Author(s)
      T. Fuke-Sato, K. Yamazawa, K. Nakabayashi, K. Matsubara, K. Matsuoka, T. Hasegawa, K. Dobashi, T. Ogata.
    • Journal Title

      Am. J. Med. Genet. A.

      Volume: 158A Issue: 2 Pages: 465-468

    • DOI

      10.1002/ajmg.a.34404

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15) mat through meiosis 1 errors2011

    • Author(s)
      Matsubara K, Murakami N, Nagai T, Ogata T
    • Journal Title

      J Hum Genet

      Volume: 56(8) Pages: 566-571

    • NAID

      10030660380

    • Related Report
      2011 Final Research Report
  • [Journal Article] Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14) pat-like phenotypes2011

    • Author(s)
      Yamazawa K, Nakabayashi K, Matsuoka K, Masubara K, Hata K, Horikawa R, Ogata T
    • Journal Title

      J Hum Genet

      Volume: 56(1) Pages: 91-3

    • Related Report
      2011 Final Research Report
  • [Journal Article] Maternal age effect on the development of Prader-Willi syndrome resulting from upd (15) mat through meiosis 1 errors2011

    • Author(s)
      K.Matsubara, N.Murakami, T.Nagai, T Ogata, et al
    • Journal Title

      J.Hum.Genet.

      Volume: 56 Issue: 8 Pages: 566-571

    • DOI

      10.1038/jhg.2011.59

    • NAID

      10030660380

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Androgenetic/biparental mosaicism in a girl with Beckwith-Wiedemann syndrome-like and upd(14)pat-like phenotypes.2011

    • Author(s)
      Yamazawa K, Nakabyashi K, Matsuoka K, Matsubara K, Hata K, Horikawa R, Ogata T.
    • Journal Title

      Journal of Human Genetics

      Volume: 56(1) Pages: 91-93

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Prenatal findings of paternal uniparental disomy 14 : Delineation of further patient2010

    • Author(s)
      Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Sugiura-Ogasawara M
    • Journal Title

      Am J Med Genet A

      Volume: 152A(12) Pages: 3189-92

    • Related Report
      2011 Final Research Report
  • [Journal Article] The IG-DMR and the MEG3-DMR at human chromosome 14q32.2 : hierarchical interaction and distinct functional properties as imprinting control centers2010

    • Author(s)
      Kagami M, O Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T
    • Journal Title

      PLoS Genet

      Volume: 6 Pages: 1000992-1000992

    • Related Report
      2011 Final Research Report
  • [Journal Article] Semen analysis and successful paternity by intracytoplasmic sperm injection in a man with steroid 5α-reductase-2 deficiency.2010

    • Author(s)
      Matsubara K, Iwamoto H, Yoshida A, Ogata T
    • Journal Title

      Fertility and Sterility

      Volume: 94(7)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Prenatal findings of paternal uniparental disomy 14 : Delineation of further patient2010

    • Author(s)
      Suzumori N, Ogata T, Mizutani E, Hattori Y, Matsubara K, Kagami M, Sugiura-Ogasawara M
    • Journal Title

      American Journal of Medical Genetics A

      Volume: 152A(12) Pages: 3189-92

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The IG-DM and MEG3-DMR at human chromosome 14q32.2 : hierarchical interaction and distinct functional properties as imprinting control centers2010

    • Author(s)
      Kagami M, O'Sullivan MJ, Green AJ, Watabe Y, Arisaka O, Masawa N, Matsuoka K, Fukami M, Matsubara K, Kato F, Ferguson-Smith AC, Ogata T
    • Journal Title

      PLoS Genetics

      Volume: 17;6(6)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Growth Hormone Secretion and its Effect on Height in Pediatric Patients with Different Genotypes of Prader-Willi Syndrome

    • Author(s)
      Oto Y, Obata K, Matsubara K, Kozu Y, Tsuchiya T, Sakazume S, Yoshino A, Murakami N, Ogata T, Nagai T
    • Journal Title

      Am J Med Genet A

      Volume: 158A(6) Pages: 1477-80

    • Related Report
      2011 Final Research Report
  • [Presentation] ARTおよびART関連因子はPWSの発症リスクとなるか2011

    • Author(s)
      松原圭子、村上信行、佐藤智子、鏡雅代、永井敏郎、深見真紀、緒方勤
    • Organizer
      第56回人類遺伝学会
    • Place of Presentation
      千葉
    • Year and Date
      2011-11-10
    • Related Report
      2011 Final Research Report
  • [Presentation] ARTおよびART関連因子はPWSの発症リスクとなるか?2011

    • Author(s)
      松原圭子、村上信行、佐藤智子、鏡雅代、永井敏郎、深見真紀、緒方勤
    • Organizer
      第56回人類遺伝学会
    • Place of Presentation
      千葉
    • Year and Date
      2011-11-10
    • Related Report
      2011 Annual Research Report
  • [Presentation] Risk assessment of ART and its related factors in the development of Prader-Willi syndrome2011

    • Author(s)
      Keiko Matsubara, Nobuyuki Murakami, Satoru Sakazume, Yuji Oto, Toshiro Nagai, Tsutomu Ogata
    • Organizer
      61st, The American Society of Human Genetics
    • Place of Presentation
      Montreal
    • Year and Date
      2011-10-11
    • Related Report
      2011 Final Research Report
  • [Presentation] Risk assessment of ART and its related factors in the development of Prader-Willi syndrome2011

    • Author(s)
      Keiko Matsubara, Nobuyuki Murakami, Satoru Sakazume, Yuji Oto, Toshiro Nagai, Tsutomu Ogata
    • Organizer
      American Society of Human Genetics
    • Place of Presentation
      Montreal, Canada
    • Year and Date
      2011-10-11
    • Related Report
      2011 Annual Research Report
  • [Presentation] ARTおよびART関連因子はPWSの発症リスクとなるか2011

    • Author(s)
      松原圭子、村上信行、佐藤智子、鏡雅代、永井敏郎、深見真紀、緒方勤
    • Organizer
      第45回小児内分泌学会
    • Place of Presentation
      大宮
    • Year and Date
      2011-10-06
    • Related Report
      2011 Final Research Report
  • [Presentation] ARTおよびART関連因子はPWSの発症リスクとなるか?2011

    • Author(s)
      松原圭子、村上信行、佐藤智子、鏡雅代、永井敏郎、深見真紀、緒方勤
    • Organizer
      第45回小児内分泌学会
    • Place of Presentation
      大宮
    • Year and Date
      2011-10-06
    • Related Report
      2011 Annual Research Report
  • [Presentation] 高齢出産はtrisomy rescueに起因する母性片親性ダイソミーの発症リスクである:Prader-Willi症候群154例の分子遺伝学的解析2011

    • Author(s)
      松原圭子、佐藤智子、鏡雅代、永井敏郎、緒方勤
    • Organizer
      第114回小児科学会
    • Place of Presentation
      東京
    • Year and Date
      2011-08-12
    • Related Report
      2011 Annual Research Report
  • [Presentation] ARTおよびART関連因子はPWSの発症リスクとなるか2011

    • Author(s)
      松原圭子、村上信行、坂爪悟、大戸祐二、緒方勤、永井敏郎
    • Organizer
      第34回小児遺伝学会
    • Place of Presentation
      横浜
    • Year and Date
      2011-08-11
    • Related Report
      2011 Final Research Report
  • [Presentation] ARTおよびART関連因子はPWSの発症リスクとなるか?2011

    • Author(s)
      松原圭子、村上信行、佐藤智子、鏡雅代、坂爪悟、大戸祐二、緒方勤、永井敏郎
    • Organizer
      第34回小児遺伝学会
    • Place of Presentation
      横浜
    • Year and Date
      2011-08-01
    • Related Report
      2011 Annual Research Report
  • [Presentation] Risk assessment of ART and its related factors in the development of Prader-Willi syndrome2011

    • Author(s)
      Keiko Matsubara, Nobuyuki Murakami, Satoru Sakazume, Yuji Oto, Toshiro Nagai, Tsutomu Ogata
    • Organizer
      European Human Genetics Conference
    • Place of Presentation
      Amsterdam
    • Year and Date
      2011-05-27
    • Related Report
      2011 Final Research Report
  • [Presentation] Risk assessment of ART and its related factors in the development of Prader-Willi syndrome2011

    • Author(s)
      Keiko Matsubara, Nobuyuki Murakami, Satoru Sakazume, Yuji Oto, Toshiro Nagai, Tsutomu Ogata
    • Organizer
      European Human Genetics Conference
    • Place of Presentation
      Amsterdam The Netherland
    • Year and Date
      2011-05-27
    • Related Report
      2011 Annual Research Report
  • [Presentation] Maternal age effect on the development of Prader-Willi syndrome resulting from upd(15) mat through meiosis 1 errors2010

    • Author(s)
      Matsubara K, Sato T, Kagami M, Nagai T and Ogata T
    • Organizer
      International Symposium on epigenome network, development and reprogramming of germ cells
    • Place of Presentation
      Fukuoka
    • Year and Date
      2010-11-22
    • Related Report
      2011 Final Research Report
  • [Presentation] 高齢出産はtrisomy rescueに起因する母性片親性ダイソミーの発症リスクである: Prader-Willi症候群117例の分子遺伝学的解析2010

    • Author(s)
      松原圭子、村上信行、佐藤智子、鏡雅代、永井敏郎、緒方勤
    • Organizer
      第16回生殖内分泌学会
    • Place of Presentation
      大阪
    • Year and Date
      2010-11-20
    • Related Report
      2011 Final Research Report
  • [Presentation] 高齢出産はtrisomy rescueに起因する母性片親性ダイソミーの発症リスクである: Prader-Willi症候群154例の分子遺伝学的解析2010

    • Author(s)
      松原圭子、佐藤智子、鏡雅代、永井敏郎、緒方勤
    • Organizer
      第44回小児内分泌学会
    • Place of Presentation
      大阪
    • Year and Date
      2010-11-20
    • Related Report
      2011 Final Research Report
  • [Presentation] Advanced maternal age increases the UPD proportion of PWS2010

    • Author(s)
      Murakami N, Matsubara K, Obata K, Sakazume S、Kido Y, Ogata T, Nagai T
    • Organizer
      Annual meeting of American society of human genetics
    • Place of Presentation
      Washington D. C.
    • Year and Date
      2010-11-02
    • Related Report
      2011 Final Research Report
  • [Presentation] 高齢出産はtrisomy rescueに起因する母性片親性ダイソミーの発症リスクである: Prader-Willi症候群154例の分子遺伝学的解析2010

    • Author(s)
      松原圭子、佐藤智子、鏡雅代、永井敏郎、緒方勤
    • Organizer
      第55回人類遺伝学会
    • Place of Presentation
      大宮
    • Year and Date
      2010-10-07
    • Related Report
      2011 Final Research Report
  • [Presentation] 高齢出産はtrisomy rescueに起因する母性片親性ダイソミーの発症リスクである:Prader-Willi症候群154例の分子遺伝学的解析2010

    • Author(s)
      松原圭子
    • Organizer
      小児内分泌学会
    • Place of Presentation
      大阪
    • Year and Date
      2010-10-07
    • Related Report
      2010 Annual Research Report
  • [Presentation] 高齢出産はtrisomy rescueに起因する母性片親性ダイソミーの発症リスクである: Prader-Willi症候群154例の分子遺伝学的解析2010

    • Author(s)
      松原圭子、佐藤智子、鏡雅代、永井敏郎、緒方勤
    • Organizer
      第14回小児分子内分泌研究会
    • Place of Presentation
      北海道
    • Year and Date
      2010-07-03
    • Related Report
      2011 Final Research Report
  • [Presentation] 日本女性の出産年齢上昇に伴うPrader-Willi症候群の発症病因の変化2010

    • Author(s)
      松原圭子、佐藤智子、鏡雅代、永井敏郎、緒方勤
    • Organizer
      第4回日本エピジェネティクス研究会
    • Place of Presentation
      鳥取
    • Year and Date
      2010-05-28
    • Related Report
      2011 Final Research Report
  • [Presentation] MATERNAL AGE EFFECTS ON THE CHANGING PROPORTION OF GENETIC CAUSES OF PRADER-WILLI SYNDROME IN JAPAN2010

    • Author(s)
      Matsubara K, Kozu Y, Sakazume S, Murakami N, Ogata T, Nagai T
    • Organizer
      7th International PWS Conference
    • Place of Presentation
      Taipei
    • Year and Date
      2010-05-20
    • Related Report
      2011 Final Research Report
  • [Presentation] 女性晩婚化に伴うプラダー・ウイリー症候群の発症病因の変化-片親性ダイソミーの増加-2010

    • Author(s)
      松原圭子、坂爪悟、城戸康宏、緒方勤、永井敏郎
    • Organizer
      第33回小児遺伝学会
    • Place of Presentation
      仙台
    • Year and Date
      2010-04-22
    • Related Report
      2011 Final Research Report
  • [Presentation] MATERNAL AGE EFFECTS ON THE CHANGING PROPORTION OF GENETIC CAUSES OF PRADER-WILLI SYNDROME IN JAPAN2010

    • Author(s)
      Matsubara K, Kozu Y, Obata K, Murakami N, Saito S, Ogata T, Nagai T
    • Organizer
      14th International Congress of Endocrinology
    • Place of Presentation
      Tokyo
    • Year and Date
      2010-04-01
    • Related Report
      2011 Final Research Report
  • [Book] Prader-Willi症候群の基礎と臨床2011

    • Author(s)
      永井敏郎編
    • Publisher
      診断と治療社
    • Related Report
      2011 Final Research Report
  • [Book] Prader-Willi症候群の基礎と臨床2011

    • Author(s)
      松原圭子、緒方勤
    • Publisher
      診断と治療社
    • Related Report
      2011 Annual Research Report

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Published: 2010-08-23   Modified: 2016-04-21  

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