Establishment of a novel syndrome caused by common genomic aberration and investigation of the etiology

2012 Fiscal Year Final Research Report

• Project/Area Number: 23791155
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Tokyo Medical and Dental University
• Principal Investigator: HAYASHI Shin 東京医科歯科大学, 硬組織疾患ゲノムセンター, 特任講師 (50596244)
• Project Period (FY): 2011 – 2012
• Keywords: 遺伝 / 先天異常学 / 新規症候群

Research Abstract

We have recruited undiagnosed cases with multiple congenital anomalies and mental retardation of unknown etiology and screened their genomic aberration by array CGH and other analyzing techniques. In this study we selected five cases of a possibly novel syndrome with resembling phenotypes to investigate a causative gene.

Research Products

• [Journal Article] Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations. (2012)
  • Author(s): Takanashi J, Okamoto N, Yamamoto Y, Hayashi S, Arai H, Takahashi Y, Maruyama K, Mizuno S, Shimakawa S, Ono H, Oyanagi R, Kubo S, Barkovich AJ, Inazawa J.
  • Journal Title: Am J Med Genet A. Volume: 158A Pages: 3112-8
  • DOI: DOI:10.1002/ajmg.a.35640.
• [Journal Article] The incidence of hypoplasia of the corpus callosum in patients with dup(X)(q28) involving MECP2 is associated with the location of distal breakpoints. (2012)
  • Author(s): Honda S, Hayashi S, Nakane T, Imoto I, Kurosawa K, Mizuno S, Okamoto N, Kato M, Kubota T, Nakagawa E, Goto Y, Inazawa J.
  • Journal Title: Am J Med Genet A. Volume: 158A Pages: 1292-303
  • DOI: DOI:02/ajmg.a.35321.
• [Journal Article] Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midfacial hypoplasia. (2012)
  • Author(s): Okamoto N, Hayashi S, Masui A, Kosaki R, Oguri I, Hasegawa T, Imoto I, Makita Y, Hata A, Moriyama K, Inazawa J.
  • Journal Title: J Hum Genet. Volume: 57 Pages: 191-6
  • DOI: DOI:10.1038/jhg.2011.154.
• [Journal Article] Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation. (2012)
  • Author(s): Honda S, Satomura S, Hayashi S, Imoto I, Nakagawa E, Goto Y, Inazawa J, Japanese Mental Retardation Consortium.
  • Journal Title: J Hum Genet. Volume: 57 Pages: 73-7
  • DOI: DOI:10.1038/jhg.2011.131.
• [Journal Article] Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). (2012)
  • Author(s): Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A, Imoto I, Inazawa J.
  • Journal Title: Hum Genet. Volume: 131 Pages: 99-110
  • DOI: DOI:10.1007/s00439-011-1047-0.
• [Journal Article] Clinical application of Array-based Comparative Genomic Hybridization by Two-stage Screening for536 Patients with Mental Retardation and Multiple Congenital Anomalies. (2011)
  • Author(s): Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H,Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J.
  • Journal Title: J Hum Genet. Volume: 56 Pages: 110-24
  • DOI: DOI:10.1038/jhg.2010.129.
• [Presentation] Investigation of the Parental Origin and Genomic Mechanisms Involved in de novo Pathogenic CNVs in Congenital Disorders (2012)
  • Author(s): Hayashi S, Naganawa M, Uehara DT, Inazawa J.
  • Organizer: The American Society of Human Genetics 62nd annual meeting
  • Place of Presentation: San Fransisco
  • Year and Date: 20121107-10
• [Presentation] 高解像度アレイを用いたpathogenicCNVを付加的に修飾する微細CNVの探索 (2012)
  • Author(s): 林深,Daniela Tiaki Uehara,長縄光代,稲澤譲治.
  • Organizer: 日本人類遺伝学会第57回大会
  • Place of Presentation: 東京
  • Year and Date: 2012-10-27
• [Presentation] 重度精神遅滞を呈する男児例に同時に見られたMECP2,ATRXの重複 (2012)
  • Author(s): 林深,本田尚三,里村茂子,井本逸勢,中川栄二,後藤雄一,稲澤譲治.
  • Organizer: 日本人類遺伝学会第57回大会
  • Place of Presentation: 東京
  • Year and Date: 2012-10-26
• [Presentation] Pathogenic CNVs and causative genes detected by two-stage screening in647 patients with mental retardation andmultiple congenital anomalies of unknown etiology (2011)
  • Author(s): Hayashi S, Imoto I, Makita Y, Hata A, Inazawa J.
  • Organizer: 12th International Congress of Human Genetics / The American Society of Human Genetics 61st annual meeting
  • Place of Presentation: Montereal
  • Year and Date: 20111012-14
• [Presentation] オリゴアレイ・SNPアレイを用いた先天異常疾患症例におけるゲノム異常評価とアレイポテンシャルの比較 (2011)
  • Author(s): 林深,Daniela Chiaki Uehara,長縄光代,井本逸勢,蒔田芳男,羽田明,稲澤譲治.
  • Organizer: 日本人類遺伝学会第56回大会
  • Place of Presentation: 千葉
  • Year and Date: 2011-11-10
• [Remarks] 日本人健常者の親子のトリオ100組をアレイ解析したデータを基に、日本人健常者集団におけるゲノム多様性であるCNVやLOHの出現頻度を収載する"MCGCNVDatabase"を構築して公開した。
  • URL: http://www.cghtmd.jp/CNVDatabase