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Isolation of causative genes for recessive spinocerebellar ataxia

Research Project

Project/Area Number 22790823
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Neurology
Research InstitutionYokohama City University

Principal Investigator

DOI Hiroshi  横浜市立大学, 医学部, 助教 (10326035)

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: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2010: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Keywords脊髄小脳変性症 / エクソーム / 常染色体劣性遺伝 / 劣性遺伝 / 次世代シーケンサー
Research Abstract

Autosomal recessive cerebellar ataxias(ARCAs) are heterogeneous disorders clinically associated with cerebellar ataxias. In this study, we performed the whole exome sequencing analysis combined with homozygosity mapping and linkage analysis, to identify causative mutations from three Japanese families of ARCA. As a result, a homozygous missense mutation in SYT14, encoding synaptotagmin XIV, was identified in one of the families. We showed that the above methods could successfully identify a causative mutation from small family.

Report

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

    (30 results)

All 2012 2011 2010

All Journal Article (25 results) (of which Peer Reviewed: 25 results) Presentation (4 results) Patent(Industrial Property Rights) (1 results)

  • [Journal Article] Exome sequencing in a family with an X-linked lethal malformation syndrome : clinical consequences of hemizygous truncating OFD1 mutations in male patients2012

    • Author(s)
      Tsurusaki Y, Kosho T, Hatasaki K, Narumi Y, Wakui K, Fukushima Y, Doi H, Saitsu H, Miyake N, Matsumoto N
    • Journal Title

      Clin Genet

      Volume: (in press) Issue: 2 Pages: 135-144

    • DOI

      10.1111/j.1399-0004.2012.01885.x

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012

    • Author(s)
      Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N
    • Journal Title

      Nat Genet

      Volume: 44 Issue: 4 Pages: 376-378

    • DOI

      10.1038/ng.2219

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Homozygous c. 14576G> A Variant of<I> RNF213</I> Predicts Early-Onset and Severe Form of Moyamoya Disease2012

    • Author(s)
      Miyatake S, Miyake N, Touho H, Nishimura-T, A, Kondo Y, Okada ; I, Tsurusaki ; Y, Doi H, Sakai H, Saitsu ; H, Shimojima K, Yamamoto T, Higurashi M, Kawahara, N, Kawauchi, H, Nagasaka, K, Okamoto N, Mori, T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsuba S, Kure S, Matsumoto N
    • Journal Title

      Neurology

      Volume: 78(11) Issue: 11 Pages: 803-10

    • DOI

      10.1212/wnl.0b013e318249f71f

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features2012

    • Author(s)
      Yoneda Y, Saitsu H, Touyama M, Makita Y, Miyamoto A, Hamada K, Kurotaki N, Tomita H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ogata K, Naritomi K, Matsumoto N
    • Journal Title

      J Hum Genet

      Volume: 57巻 Issue: 3 Pages: 207-211

    • DOI

      10.1038/jhg.2012.7

    • NAID

      10030712151

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] A family of oculofaciocardiodental syndrome(OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS2012

    • Author(s)
      Kondo Y, Saitsu H, Miyamoto T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ryoo NK, Kim JH, Yu YS, Matsumoto N
    • Journal Title

      J Hum Genet

      Volume: 57巻 Issue: 3 Pages: 197-201

    • DOI

      10.1038/jhg.2012.4

    • NAID

      10030712110

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome2012

    • Author(s)
      *Saitsu H et al.
    • Journal Title

      Clinical Genetics

      Volume: 81(4):399-402 Issue: 4 Pages: 86-90

    • DOI

      10.1111/j.1399-0004.2011.01733.x

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Rapid detection of gene mutations responsible for non-syndromic aortic aneurysm and dissection using two different methods : resequencing microarray technology and next-generation sequencing2012

    • Author(s)
      Sakai H, Suzuki S, Mizuguchi T, Imoto K, Yamashita Y, Doi H, Kikuchi M, Tsurusaki Y, Saitsu H, Miyake N, Masuda M, Matsumoto N
    • Journal Title

      Hum Genet

      Volume: 131巻 Issue: 4 Pages: 591-599

    • DOI

      10.1007/s00439-011-1105-7

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL52012

    • Author(s)
      *Saitsu H et al.
    • Journal Title

      Brain Dev

      Volume: 34(5):364-7 Issue: 5 Pages: 364-367

    • DOI

      10.1016/j.braindev.2011.07.004

    • NAID

      10031050724

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen alpha2 Chain Cause Porencephaly2011

    • Author(s)
      Yoneda Y, et al.
    • Journal Title

      Am J Hum Genet

      Volume: 90 Issue: 1 Pages: 86-90

    • DOI

      10.1016/j.ajhg.2011.11.016

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation2011

    • Author(s)
      Doi H, Yoshida K, Yasuda T, Fukuda M, Fukuda Y, Morita H, et al
    • Journal Title

      Am J Hum Genet

      Volume: 89 Issue: 2 Pages: 320-327

    • DOI

      10.1016/j.ajhg.2011.07.012

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2)2011

    • Author(s)
      Saitsu H, Osaka H, Sugiyama S, Kurosawa K, Mizuguchi T, Nishiyama K, Nishimura A, Tsurusaki Y, Doi H, Miyake N, Harada N, Kato M, Matsumoto N
    • Journal Title

      Am J Med Genet A

      Volume: (in press) Issue: 1 Pages: 2879-84

    • DOI

      10.1002/ajmg.a.34363

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy.2011

    • Author(s)
      Saitsu H. et al.
    • Journal Title

      Am J Hum Genet.

      Volume: 89 Issue: 5 Pages: 644-651

    • DOI

      10.1016/j.ajhg.2011.10.003

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] A novel homozygous mutation of DARS2 may cause a severe LBSL variant2011

    • Author(s)
      Miyake N, Yamashita S, Kurosawa K, Miyatake S, Tsurusaki Y, Doi H, Saitsu H, Matsumoto N
    • Journal Title

      Clin Genet

      Volume: 80巻 Issue: 3 Pages: 293-296

    • DOI

      10.1111/j.1399-0004.2011.01644.x

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Exome sequencing of two patients in a family with atypical X-linked leukodystrophy2011

    • Author(s)
      Tsurusaki Y, Okamoto N, Suzuki Y, Doi H, Saitsu H, Miyake N, Matsumoto N
    • Journal Title

      Clin Genet

      Volume: 80巻 Issue: 2 Pages: 161-166

    • DOI

      10.1111/j.1399-0004.2011.01721.x

    • Related Report
      2011 Annual Research Report 2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa2011

    • Author(s)
      Tadaki H, Saitsu H, Kanegane H, Miyake N, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Nishimura A, Doi H, Tsurusaki Y, Sakai H, Yokota S, Matsumoto N
    • Journal Title

      Int J Immunogenet

      Volume: 38巻 Issue: 4 Pages: 287-293

    • DOI

      10.1111/j.1744-313x.2011.01005.x

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis2011

    • Author(s)
      Tadaki H, Saitsu H, Nishimura-Tadaki A, Imagawa T, Kikuchi M, Hara R, Kaneko U, Kishi T, Miyamae T, Miyake N, Doi H, Tsurusaki Y, Sakai H, Yokota S, Matsumoto N
    • Journal Title

      J Hum Genet

      Volume: 56巻 Issue: 5 Pages: 343-347

    • DOI

      10.1038/jhg.2011.16

    • NAID

      10030659126

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing2011

    • Author(s)
      Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N
    • Journal Title

      J Med Genet

      Volume: 48巻 Issue: 9 Pages: 606-609

    • DOI

      10.1136/jmg.2010.083535

    • Related Report
      2011 Final Research Report
    • Peer Reviewed
  • [Journal Article] Breakpoint determination of X ; autosome balanced translocations in four patients with premature ovarian failure.2011

    • Author(s)
      只木章, 他
    • Journal Title

      Journal of Human Genetics

      Volume: 56 Pages: 156-160

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] A de novo deletion of 20q11.2-q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty.2011

    • Author(s)
      平木洋子, 他
    • Journal Title

      American Journal of Medical Genetics Part A

      Volume: 155 Pages: 409-14

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis.2011

    • Author(s)
      只木弘美, 他
    • Journal Title

      Journal of Human Genetics

      Volume: (In press)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Exonic deletion of CASP10 in a patient presenting with systemic juvenile idiopathic arthritis, but not with autoimmune lymphoproliferative syndrome type IIa.2011

    • Author(s)
      只木弘美, 他
    • Journal Title

      International Journal of Immunogenetics

      Volume: (In press)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing.2011

    • Author(s)
      鶴崎美徳, 他
    • Journal Title

      Journal of Medical Genetics

      Volume: (In press)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome.2010

    • Author(s)
      三宅紀子, 他
    • Journal Title

      Human Mutation

      Volume: 31 Pages: 966-974

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Paternal mosaicism of an STXBP1 mutation in OS.2010

    • Author(s)
      才津浩智, 他
    • Journal Title

      Clinical Genetics

      Volume: (In press)

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] SMOC1 is essential for ocular and limb development in humans and mice.2010

    • Author(s)
      岡田一平, 他
    • Journal Title

      The American Journal of Human Genetics

      Volume: 88 Pages: 30-41

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Presentation] Exome sequencing reveals a novel homozygous mutation in adult-onset autosomal recessive spinocerebellar ataxia with psychomotor retardation2011

    • Author(s)
      土井宏
    • Organizer
      American Society of Human Genetics Annual Meeting
    • Place of Presentation
      Montreal、Canada
    • Year and Date
      2011-10-14
    • Related Report
      2011 Final Research Report
  • [Presentation] Exome sequencing reveals a novel homozygous mutation in adult-onset autosomal recessive spinocerebellar ataxia with psychomotor retardation2011

    • Author(s)
      土井宏
    • Organizer
      American Society of Human Genetics Annual Meeting 2011
    • Place of Presentation
      Montreal, Canada
    • Year and Date
      2011-10-14
    • Related Report
      2011 Annual Research Report
  • [Presentation] 次世代シーケンサーを用いた常染色体劣性遺伝性脊髄小脳変性症責任遺伝子の単離研究2011

    • Author(s)
      土井宏
    • Organizer
      日本神経学会学術大会
    • Place of Presentation
      名古屋国際会議場(愛知県)
    • Year and Date
      2011-05-19
    • Related Report
      2011 Annual Research Report 2011 Final Research Report
  • [Presentation] 脊髄小脳失調症2型患者脊髄前角細胞の免疫組織化学的検討2010

    • Author(s)
      土井宏, 他
    • Organizer
      第51回日本神経学会総会
    • Place of Presentation
      東京、東京国際フォーラム
    • Year and Date
      2010-05-21
    • Related Report
      2010 Annual Research Report
  • [Patent(Industrial Property Rights)] 常染色体劣性遺伝性脊髄小脳変性症の検出方法2011

    • Inventor(s)
      土井宏、松本直通
    • Industrial Property Rights Holder
      横浜市立大学
    • Industrial Property Number
      2011-136277
    • Filing Date
      2011-06-20
    • Related Report
      2011 Annual Research Report 2011 Final Research Report

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

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