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MBTPS2 mutation causes BRESEK/BRESHECK syndrome

Research Project

Project/Area Number 23592636
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Pediatric surgery
Research InstitutionInstitute for Developmental Research, Aichi Human Service Center

Principal Investigator

YAMADA Kenichiro  愛知県心身障害者コロニー発達障害研究所, 遺伝学部, 主任研究員 (30291173)

Project Period (FY) 2011 – 2013
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2012: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2011: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
KeywordsMBTPS2 / BRESHECK/IFAP症候群 / 小胞体ストレス / 巨大結腸症 / 魚鱗癬 / BRESEK/BRESHECK症候群 / IFAP症候群 / 脱毛
Research Abstract

In this study, we have identified the p.Arg429His mutation in MBTPS2 encoding membrane-bound transcription factor peptidase, site 2 (S2P) causes BRESEK/BRESHECK syndrome, which is characterized by brain anomaly, intellectual disability, growth retardation, ectodermal dysplasia, vertebral (skeletal) anomaly, Hirschsprung disease, low set and large ears, cryptorchidism, and small-sized kidneys. Mbtps2 knockdown increased the ratio of abnormal cells stained with an anti-activated-caspase-3 antibody. Mbtps2 protein transduces ER stress signals by cleaving and activating the transcriptional factor ATF6. Transfection of activated ATF6 into Mbtps2-knockdown neurons decreased the number of apoptotic cells demonstrating caspase-3 activation.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • 2011 Research-status Report
  • Research Products

    (27 results)

All 2014 2013 2012 2011

All Journal Article (11 results) (of which Peer Reviewed: 11 results) Presentation (16 results)

  • [Journal Article] The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations2014

    • Author(s)
      Yamada Y, Nomura N, Yamada K, Matsuo M, Suzuki Y, Sameshima K, Kimura R, Yamamoto Y, Fukushi D, Fukuhara Y, Ishihara N, Nish E, Imataka G, Suzumura H, Hamano S, Shimizu K, Iwakoshi M, Ohama K, Ohta A, Wakamoto H, Kajita M, Miura K, Yokochi K, Kosaki K, Kuroda T, Kosaki R, Hiraki Y, Saito K, Mizuno S, Kurosawa K, Okamoto N, Wakamatsu N.
    • Journal Title

      Am J Med Genet A

      Volume: in press

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy2014

    • Author(s)
      Naiki M, Ochi N, Kato YS, Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N.
    • Journal Title

      Am J Med Genet A.

      Volume: 164(5) Pages: 1180-1187

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP22014

    • Author(s)
      Fukushi D, Yamada K, Nomura N, Naiki M, Kimura R, Yamada Y, Kumagai T, Yamaguchi K, Miyake Y, Wakamatsu N.
    • Journal Title

      Am J Med Genet A.

      Volume: 164A(4) Pages: 924-933

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.2014

    • Author(s)
      Fukushi D, Yamada K, Nomura N, Naiki M, Kimura R, Yamada Y, Kumagai T, Yamaguchi K, Miyake Y, Wakamatsu N
    • Journal Title

      Am J Med Genet A

      Volume: 164(4) Issue: 4 Pages: 924-933

    • DOI

      10.1002/ajmg.a.36373

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.2014

    • Author(s)
      Naiki M, Ochi N, Kato YS , Purevsuren J, Yamada K, Kimura R, Fukushi D, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N
    • Journal Title

      Am J Med Genet A

      Volume: in press Issue: 5 Pages: 1180-1187

    • DOI

      10.1002/ajmg.a.36434

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] The spectrum of ZEB2 mutations causing the Mowat-Wilson syndrome in Japanese populations.2014

    • Author(s)
      Yamada Y, Nomura N, Yamada K, et al. (32名中3番目)
    • Journal Title

      Am J Med Genet A

      Volume: in press Issue: 8 Pages: 1899-908

    • DOI

      10.1002/ajmg.a.36551

    • Related Report
      2013 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Characterization of the mutant β-subunit of β-hexosaminidase for dimer formation responsible for the adult form of Sandhoff disease with the motor neuron disease phenotype2013

    • Author(s)
      Yamada K, Takado Y, Kato YS, Yamada Y, Ishiguro H, Wakamatsu N.
    • Journal Title

      J Biochem.

      Volume: 153(1) Pages: 111-119

    • NAID

      40019546596

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Identification and characterization of splicing variants of PLEKHA5 (Plekha5) during brain development2012

    • Author(s)
      Yamada K, Nomura N, Yamano A, Yamada Y, Wakamatsu N.
    • Journal Title

      Gene. 15

      Volume: 492(1) Pages: 270-275

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] MBTPS2 mutation causes BRESEK/BRESHECK syndrome2012

    • Author(s)
      Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N.
    • Journal Title

      Am J Med Genet A.

      Volume: 158 Pages: 97-102

    • Related Report
      2013 Final Research Report
    • Peer Reviewed
  • [Journal Article] Identification and characterization of splicing variants ofPLEKHA5 (Plekha5) during brain development.2012

    • Author(s)
      Yamada K, Nomura N, Yamano A, Yamada Y, Wakamatsu N
    • Journal Title

      Gene

      Volume: 492 Issue: 1 Pages: 270-275

    • DOI

      10.1016/j.gene.2011.10.018

    • Related Report
      2012 Research-status Report
    • Peer Reviewed
  • [Journal Article] MBTPS2 mutation causes BRESEK/BRESHECK syndrome.2012

    • Author(s)
      Naiki M, Mizuno S, Yamada K, Yamada Y, Kimura R, Oshiro M, Okamoto N, Makita Y, Seishima M, Wakamatsu N
    • Journal Title

      Am J Med Genet A

      Volume: 158A Issue: 1 Pages: 97-102

    • DOI

      10.1002/ajmg.a.34373

    • Related Report
      2011 Research-status Report
    • Peer Reviewed
  • [Presentation] HIBCH (3-hydroxyisobutyryl- CoA hydrolase) 欠損症の姉妹例.2014

    • Author(s)
      山田憲一郎,内木美沙子,星野 伸,野村紀子,木村礼子,福士大輔,山田裕一,三浦清邦,若松延昭
    • Organizer
      東海臨床遺伝・代謝懇話会
    • Place of Presentation
      安保ホール、名古屋
    • Related Report
      2013 Annual Research Report
  • [Presentation] The pathogenic mechanism of severe intellectual disability caused by MBTPS2 deficiency (BRESHECK/IFAP syndrome)2013

    • Author(s)
      Yamada K, Fukuhara Y, Mizuno S, Nakanishi K, Nomura N, Yamada Y, Wakamatsu N
    • Organizer
      The Asian Congress for Inherited Metabolic Disease (ACIMD) and The Annual Meeting of The Japanese Society for Inherited Metabolic Disease (JSIMD)
    • Place of Presentation
      浦安
    • Related Report
      2013 Final Research Report
  • [Presentation] 海馬初代培養神経細胞を用いたMBTPS2変異により発症する重度知的障害の病態解明2013

    • Author(s)
      山田憲一郎,福原弥生,中西圭子,水野誠司,山田裕一,若松延昭
    • Organizer
      日本生化学会大会
    • Place of Presentation
      横浜
    • Related Report
      2013 Final Research Report
  • [Presentation] 重度型MBTPS2異常症 (BRESEK/BRESHECK症候群)の病態解明2013

    • Author(s)
      山田憲一郎,水野誠司,中西圭子,野村紀子,山田裕一,若松延昭
    • Organizer
      東海臨床遺伝・代謝懇話会
    • Place of Presentation
      名古屋
    • Related Report
      2013 Final Research Report
  • [Presentation] 重度型MBTPS2異常症 (BRESEK/BRESHECK症候群)の病態解明2013

    • Author(s)
      山田憲一郎,水野誠司,中西圭子,野村紀子,山田裕一,若松延昭
    • Organizer
      東海臨床遺伝・代謝懇話会
    • Place of Presentation
      安保ホール、名古屋
    • Related Report
      2013 Annual Research Report
  • [Presentation] HPRT欠損症:新たな日本人家系のHPRT1変異とPRPP濃度2013

    • Author(s)
      山田裕一,野村紀子,山農亜里佐,山田憲一郎,木村礼子,福士大輔,長谷川弘,中村真希子,市田公美,若松延昭
    • Organizer
      日本生化学会大会
    • Place of Presentation
      パシフィコ横浜、横浜
    • Related Report
      2013 Annual Research Report
  • [Presentation] 海馬初代培養神経細胞を用いたMBTPS2変異により発症する重度知的障害の病態解明2013

    • Author(s)
      山田憲一郎,福原弥生,中西圭子,水野誠司,山田裕一,若松延昭
    • Organizer
      日本生化学会大会
    • Place of Presentation
      パシフィコ横浜、横浜
    • Related Report
      2013 Annual Research Report
  • [Presentation] Variability in the level of erythrocyte glucose uptake in two patients of Glut1 deficiency syndrome with the same SLC2A1 mutation.2013

    • Author(s)
      Ishihara N, Natsume J, Yanagihara K, Fukuhara Y, Yamada K, Yamada Y, Azuma Y, Negoro T, Wakamatsu N, Watanabe K
    • Organizer
      Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Boston Convention & Exhibition Center, Boston, USA
    • Related Report
      2013 Annual Research Report
  • [Presentation] Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathy.2013

    • Author(s)
      Yamada K, Naiki M, Ochi N, Kato YS, Purevsuren J, Kimura R, Fukushi, Hara S, Yamada Y, Kumagai T, Yamaguchi S, Wakamatsu N
    • Organizer
      Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Boston Convention & Exhibition Center, Boston, USA
    • Related Report
      2013 Annual Research Report
  • [Presentation] Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration.2013

    • Author(s)
      Yamada Y, Nomura N, Yamano A, Yamada K, Kimura R, Fukushi D, Hasegawa H1, Nakamura, Ichida K, Wakamatsu N
    • Organizer
      Annual Meeting of the American Society of Human Genetics
    • Place of Presentation
      Boston Convention & Exhibition Center, Boston, USA
    • Related Report
      2013 Annual Research Report
  • [Presentation] Mowat-Wilson症候群の遺伝子解析:新たなZEB2遺伝子変異.2013

    • Author(s)
      山田裕一,野村紀子,山田憲一郎,木村礼子,福士大輔,水野誠司,清水健司,松尾真理,斎藤加代子,若松延昭
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      江陽グランドホテル、仙台
    • Related Report
      2013 Annual Research Report
  • [Presentation] COACH 症候群(JS-H: Joubert syndrome with hepatic disease)の双胎同胞例.2013

    • Author(s)
      水野誠司,橋本真帆,菱川容子,木村礼子,山田憲一郎,山田裕一,若松延昭
    • Organizer
      日本人類遺伝学会
    • Place of Presentation
      江陽グランドホテル、仙台
    • Related Report
      2013 Annual Research Report
  • [Presentation] The pathogenic mechanism of severe intellectual disability caused by MBTPS2 deficiency (BRESHECK/IFAP syndrome).2013

    • Author(s)
      Yamada K, Fukuhara Y, Mizuno S, Nakanishi K, Nomura N, Yamada Y, Wakamatsu N
    • Organizer
      The Asian Congress for Inherited Metabolic Disease (ACIMD) and The Annual Meeting of The Japanese Society for Inherited Metabolic Disease (JSIMD).
    • Place of Presentation
      Tokyo Bay Maihama Hotel Club Resort, Chiba, Japan
    • Related Report
      2013 Annual Research Report
  • [Presentation] BRESEK/BRESHECK症候群の原因遺伝子 (MBTPS2)の脳発達における機能解析2012

    • Author(s)
      山田憲一郎,福原弥生,水野誠司,内木美沙子,木村礼子,山田裕一,中西圭子,若松延昭
    • Organizer
      日本生化学会大会
    • Place of Presentation
      福岡
    • Related Report
      2013 Final Research Report
  • [Presentation] BRESEK/BRESHECK症候群の病因遺伝子(MBTPS2)の脳発達おける機能解析2012

    • Author(s)
      山田憲一郎、福原弥生、水野誠司、内木美沙子、木村礼子、山田裕一、中西圭子、若松延昭
    • Organizer
      第85回日本生化学会大会 2012
    • Place of Presentation
      福岡国際会議場・マリンメッセ福岡
    • Related Report
      2012 Research-status Report
  • [Presentation] A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations2011

    • Author(s)
      K Yamada, K Miura, K Hara, M Suzuki, K, et al.
    • Organizer
      12th International Congress of Human Genetics (ICHG) & 61st American Society of Human Genetics (ASHG) Annual Meeting.
    • Place of Presentation
      Montreal (Quebec), Canada
    • Related Report
      2011 Research-status Report

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Published: 2011-08-05   Modified: 2019-07-29  

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