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Genetic analysis of HPMR syndrome

Research Project

Project/Area Number 25461535
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatrics
Research InstitutionTohoku University

Principal Investigator

Fujiwara Ikuma  東北大学, 医学(系)研究科(研究院), 教授 (10271909)

Co-Investigator(Kenkyū-buntansha) KANNO Junko  東北大学, 大学病院, 講師 (30509386)
HAKODA Akiko  東北大学, 大学院医学系研究科, 非常勤講師 (70509398)
Co-Investigator(Renkei-kenkyūsha) NIIHORI Tetsuya  東北大学, 大学院医学系研究科, 准教授 (40436134)
Research Collaborator MURAKAMI Yoshiko  
Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2015: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Keywords高アルカリフォスファターゼ血症 / GPI / 発達遅滞 / Mabry症候群 / HPMR症候群 / 全エクソンシークエンス / GPIアンカー / アルカリフォスファターゼ
Outline of Final Research Achievements

We found two heterozygous frameshift mutations in PIGL gene in a patient with Mabry syndrome, or hyperphosphatasia mental retardation syndrome (HPMRS) by whole-exome sequencing. Surface expression of the glycosylphosphatidylinositol (GPI)-anchored proteins, such as DAF, FLARE, CD24 and CD16, were decreased both in granulocytes from the patient and PIGL-deficient CHO cells expressing the mutated cDNA.
Nonsynonymous changes or frameshift mutations in PIGL have been identified in patients with CHIME syndrome. These results suggest that frameshift mutations that result in premature termination in PIGL cause a phenotype that is consistent with HPMRS.

Report

(4 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • 2013 Research-status Report
  • Research Products

    (3 results)

All 2015 Other

All Journal Article (1 results) (of which Peer Reviewed: 1 results,  Open Access: 1 results) Presentation (2 results)

  • [Journal Article] Mutations in PIGL in a patient with Mabry syndrome.2015

    • Author(s)
      Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y.
    • Journal Title

      Am J Med Genet A.

      Volume: in press Issue: 4 Pages: 777-785

    • DOI

      10.1002/ajmg.a.36987

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] PIGL遺伝子変異はhyperphosphatasia mental retardation(HPMR)症候群(Mabry症候群)の原因となる2015

    • Author(s)
      藤原幾磨、村上良子、新堀哲也、菅野潤子、箱田明子、木下タロウ、松原洋一、青木洋子
    • Organizer
      第49回日本小児内分泌学会
    • Place of Presentation
      東京(タワーホール船堀)
    • Year and Date
      2015-10-08
    • Related Report
      2015 Annual Research Report
  • [Presentation] Genes related to glycosylphosphatidylinositol biosynthesis are possible cause of hyperphosphatemia mental retardation syndrome

    • Author(s)
      藤原幾磨
    • Organizer
      The Scientific Satellite Symposium On Pediatric Bone Disease IBMB-JSBMR 2013(第30回小児代謝性骨疾患研究会)
    • Place of Presentation
      千里ライフサイエンスセンター(大阪)
    • Related Report
      2013 Research-status Report

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

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