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The frequency of cases with imprinting disorders in hypotonic neonates and infants

Research Project

Project/Area Number 15K09734
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Embryonic/Neonatal medicine
Research InstitutionNational Center for Child Health and Development

Principal Investigator

Matsubara Keiko  国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 上級研究員 (90542952)

Co-Investigator(Kenkyū-buntansha) 和田 友香  国立研究開発法人国立成育医療研究センター, 周産期センター, 医師 (80399485)
Co-Investigator(Renkei-kenkyūsha) Shibasaki Jun  神奈川県立こども医療センター, 新生児科, 医長 (30540471)
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: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Keywordsインプリンティング疾患 / 筋緊張低下 / 染色体微細構造異常 / インプリンティング異常症 / メチル化異常 / 染色体構造異常
Outline of Final Research Achievements

In this study, we focused on the genetic background among hypotonic neonates and infants. We performed molecular analyses, such as pyrosequencing and aCGH for a screening of human imprinting disorders (IDs) and chromosomal rearrangement (CR) respectively. Among 70 cases showing hypotonia during their neonatal or infantile period, we identified 10 cases with IDs (14.3%, 1 with Silver-Russell syndrome; SRS, 1 with Temple syndrome; TS14, 7 with Prader-Willi syndrome; PWS and 1 with Angelman syndrome) and 9 with CR (12.9%). Our study indicated that IDs and CR should be considered as possible diagnoses for hypotonic children. Besides, this result suggested the usefulness of methylation screening targeting not only Prader-Willi syndrome but also other IDs (SRS, TS14, etc.) in hypotonic children.

Report

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

    (27 results)

All 2017 2016 2015 2014

All Journal Article (17 results) (of which Int'l Joint Research: 4 results,  Peer Reviewed: 17 results,  Open Access: 8 results,  Acknowledgement Compliant: 4 results) Presentation (9 results) (of which Int'l Joint Research: 2 results,  Invited: 2 results) Book (1 results)

  • [Journal Article] (Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I2017

    • Author(s)
      Sano Shinichiro、Nakamura Akie、Matsubara Keiko、Nagasaki Keisuke、Fukami Maki、Kagami Masayo、Ogata Tsutomu
    • Journal Title

      J Endocr Soc

      Volume: 2 Issue: 1 Pages: 9-23

    • DOI

      10.1210/js.2017-00293

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Continuous hypomethylation of the KCNQ1OT1:TSS-DMR in monochorionic twins discordant for Beckwith-Wiedemann syndrome2017

    • Author(s)
      Inoue Takanobu、Nakamura Akie、Matsubara Keiko、Nyuzuki Hiromi、Nagasaki Keisuke、Oka Akira、Fukami Maki、Kagami Masayo
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 173 Issue: 10 Pages: 2847-2850

    • DOI

      10.1002/ajmg.a.38419

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients2017

    • Author(s)
      Kagami Masayo、Nagasaki Keisuke、Kosaki Rika、Horikawa Reiko、Naiki Yasuhiro、Saitoh Shinji、Tajima Toshihiro、Yorifuji Tohru、Numakura Chikahiko、Mizuno Seiji、Nakamura Akie、Matsubara Keiko、Fukami Maki、Ogata Tsutomu
    • Journal Title

      Genet Med

      Volume: 19 Issue: 12 Pages: 1356-1366

    • DOI

      10.1038/gim.2017.53

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver?Russell syndrome2017

    • Author(s)
      Dateki Sumito、Kagami Masayo、Matsubara Keiko、Izumi Kei、Watanabe Satoshi、Nakatomi Akiko、Kondoh Tatsuro、Fukami Maki、Moriuchi Hiroyuki
    • Journal Title

      Journal of Human Genetics

      Volume: 62 Issue: 10 Pages: 919-922

    • DOI

      10.1038/jhg.2017.62

    • NAID

      120006987395

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects.2017

    • Author(s)
      Inoue T, Nakamura A, Fuke T, Yamazawa K, Sano S, Matsubara K, Mizuno S, Matsukura Y, Harashima C, Hasegawa T, Nakajima H, Tsumura K, Kizaki Z, Oka A, Ogata T, Fukami M, Kagami M.
    • Journal Title

      Clin Epigenetics

      Volume: 9 Issue: 1 Pages: 52-52

    • DOI

      10.1186/s13148-017-0350-6

    • Related Report
      2017 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome.2017

    • Author(s)
      Kagami M, Matsubara K, Nakabayashi K, Nakamura A, Sano S, Okamura K, Hata K, Fukami M, Ogata T.
    • Journal Title

      Genet Med.

      Volume: 19 Issue: 4 Pages: 476-482

    • DOI

      10.1038/gim.2016.123

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Silver-Russell syndrome in a patient with somatic mosaicism for upd(11)mat identified by buccal cell analysis2017

    • Author(s)
      Luk HM, Ivan Lo FM, Sano S, Matsubara K, Nakamura A, Ogata T, Kagami M.
    • Journal Title

      Am J Med Genet A

      Volume: 170(7) Issue: 7 Pages: 1938-41

    • DOI

      10.1002/ajmg.a.37679

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Catastrophic cellular events leading to complex chromosomal rearrangements in the germline.2017

    • Author(s)
      Fukami M, Shima H, Suzuki E, Ogata T, Matsubara K, Kamimaki T.
    • Journal Title

      Clinical Genetics

      Volume: 91 Issue: 5 Pages: 653-660

    • DOI

      10.1111/cge.12928

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader-Willi syndrome due to UPD(15)mat.2016

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

      Clin Genet.

      Volume: 89(5) Issue: 5 Pages: 614-619

    • DOI

      10.1111/cge.12691

    • Related Report
      2016 Research-status Report 2015 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Journal Article] Complex Genomic Rearrangement Within the GNAS Region Associated With Familial Pseudohypoparathyroidism Type 1b.2016

    • Author(s)
      Nakamura A, Hamaguchi E, Horikawa R, Nishimura Y, Matsubara K, Sano S, Nagasaki K, Matsubara Y, Umezawa A, Tajima T, Ogata T, Kagami M, Okamura K, Fukami M.
    • Journal Title

      J Clin Endocrinol Metab

      Volume: 101(7) Issue: 7 Pages: 2623-7

    • DOI

      10.1210/jc.2016-1725

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus methylation defects: a female-dominant phenomenon?2016

    • Author(s)
      Shinichiro Sano
    • Journal Title

      Journal of Human Genetics

      Volume: 未定 Issue: 8 Pages: 765-9

    • DOI

      10.1038/jhg.2016.45

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations.2016

    • Author(s)
      Suzuki E, Shima H, Toki M, Hanew K, Matsubara K, Kurahashi H, Narumi S, Ogata T, Kamimaki T, *Fukami M.
    • Journal Title

      Cytogenet Genome Res

      Volume: 150 Issue: 2 Pages: 86-92

    • DOI

      10.1159/000455026

    • Related Report
      2016 Research-status Report
    • Peer Reviewed / Acknowledgement Compliant
  • [Journal Article] Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regions.2015

    • Author(s)
      Matsubara K, Kagami M, Nakabayashi K, Hata K, Fukami M, Ogata T, Yamazawa K.
    • Journal Title

      Clin Epigenetics

      Volume: 28;7(1) Issue: 1 Pages: 90-90

    • DOI

      10.1186/s13148-015-0124-y

    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Clinical and molecular findings in a patient with 46,XX/47,XX,+14 mosaicism caused by postzygotic duplication of a paternally derived chromosome 14.2015

    • Author(s)
      Suzumori N, Kagami M, Kumagai K, Goto S, Matsubara K, Sano S, Sugiura-Ogasawara M.
    • Journal Title

      Am J Med Genet A

      Volume: 167(10) Issue: 10 Pages: 2474-7

    • DOI

      10.1002/ajmg.a.37194

    • Related Report
      2015 Research-status Report
    • Peer Reviewed
  • [Journal Article] Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type Ib2015

    • Author(s)
      Sano S, Iwata H, Matsubara K, Fukami M, Kagami M, Ogata T.
    • Journal Title

      Endocrine Journal

      Volume: 62 Issue: 6 Pages: 523-529

    • DOI

      10.1507/endocrj.EJ15-0033

    • NAID

      130005085768

    • ISSN
      0918-8959, 1348-4540
    • Related Report
      2015 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [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
      2015 Research-status Report
    • Peer Reviewed
  • [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
      2015 Research-status Report
    • Peer Reviewed / Open Access / Acknowledgement Compliant
  • [Presentation] 種々の発症原因を有するインプリンティング疾患患者127名におけるMultilocus Methylation Defectsの検討2017

    • Author(s)
      松原 圭子、中村 明枝、井上 毅信、川嶋 明香、深見 真紀、鏡 雅代
    • Organizer
      第62回人類遺伝学会
    • Related Report
      2017 Annual Research Report
  • [Presentation] 種々の発症原因を有するインプリンティング疾患患者127名におけるMultilocus Methylation Defectsの検討2017

    • Author(s)
      松原 圭子、中村 明枝、井上 毅信、川嶋 明香、深見 真紀、鏡 雅代
    • Organizer
      第51回日本小児内分泌学会学術集会
    • Related Report
      2017 Annual Research Report
  • [Presentation] INSRまたはIGF1R遺伝子機能低下型変異を有する症例のDMRにおけるメチル化状態の評価2016

    • Author(s)
      松原圭子、鞁嶋有紀、中林一彦、中村明枝、井上毅信、秦健一郎、深見真紀、鏡雅代
    • Organizer
      第39回日本小児遺伝学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      2016-12-09
    • Related Report
      2016 Research-status Report
  • [Presentation] The DNA methylation status at imprinted differentially methylated regions in the patients with hypomorphic mutations in INSR or IGF1R gene2016

    • Author(s)
      Matsubara K, Kawashima Y, Nakabayashi K, Nakamura A, Inoue T, Hata K, Kagami M
    • Organizer
      第50回小児内分泌学会/第9回アジア太平洋小児内分泌学会
    • Place of Presentation
      東京
    • Year and Date
      2016-11-16
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research
  • [Presentation] Risk assessment of assisted reproductive technology and advanced maternal ages in the development of uniparental disomy2016

    • Author(s)
      Keiko Matsubara, Nobuyuki Murakami, Maki Fukami, Masayo Kagami, Toshiro Nagai, and Tsutomu Ogata
    • Organizer
      International Prader-Willi syndrome Organization
    • Place of Presentation
      Tronto, Canada
    • Year and Date
      2016-07-20
    • Related Report
      2016 Research-status Report
  • [Presentation] Risk assessment of assisted reproductive technology and advanced maternal ages in the development of uniparental disomy2016

    • Author(s)
      Keiko Matsubara
    • Organizer
      ICHG/第61回人類遺伝学会
    • Place of Presentation
      京都
    • Year and Date
      2016-04-03
    • Related Report
      2016 Research-status Report
    • Int'l Joint Research / Invited
  • [Presentation] 生殖補助医療と高齢出産が片親性ダイソミー発症に及ぼす影響について考える2015

    • Author(s)
      松原圭子
    • Organizer
      第38回分子生物学会
    • Place of Presentation
      神戸
    • Year and Date
      2015-12-01
    • Related Report
      2015 Research-status Report
    • Invited
  • [Presentation] 顕微授精により出生しSilver-Russell症候群の表現型の有無に差のある品胎に対する網羅的メチル化解析2015

    • Author(s)
      松原圭子、長崎啓祐、中村明枝、佐野伸一朗、深見真紀、緒方勤、鏡雅代
    • Organizer
      第60回人類遺伝学会
    • Place of Presentation
      東京
    • Year and Date
      2015-10-15
    • Related Report
      2015 Research-status Report
  • [Presentation] 顕微授精により出生しSilver-Russell症候群の表現型の有無に差のある品胎に対する網羅的メチル化解析2015

    • Author(s)
      松原圭子、長崎啓祐、中村明枝、佐野伸一朗、深見真紀、緒方勤、鏡雅代
    • Organizer
      第49回小児内分泌学会
    • Place of Presentation
      東京
    • Year and Date
      2015-10-08
    • Related Report
      2015 Research-status Report
  • [Book] ヒトインプリンティング疾患2017

    • Author(s)
      松原 圭子
    • Total Pages
      357
    • Publisher
      医歯薬出版株式会社
    • Related Report
      2017 Annual Research Report

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

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