• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

The elucidation of disease gene and deletion mechanism in del 22q11.2 syndrome.

Research Project

Project/Area Number 13670844
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionTokyo Women's Medical University

Principal Investigator

MATSUOKA Rumiko  Tokyo Women's Medical University, School of Medicine, Assistant Professor, 医学部, 講師 (50120051)

Co-Investigator(Kenkyū-buntansha) IMAMAURA Shin-ichiro  Tokyo Women's Medical University School of Medicine, Assistant, 医学部, 助手 (00176497)
MINAMISAWA Susumu  Tokyo Women's Medical University, School of Medicine, Assistant, 医学部, 助手 (40257332)
NAKAZAWA Makoto  Tokyo Women's Medical University, School of Medicine, Professor, 医学部, 教授 (10075567)
Project Period (FY) 2001 – 2002
Project Status Completed (Fiscal Year 2002)
Budget Amount *help
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 2002: ¥1,700,000 (Direct Cost: ¥1,700,000)
Fiscal Year 2001: ¥1,800,000 (Direct Cost: ¥1,800,000)
Keywordsdel 22q11.2 syndrome / TBX1 / glycoprotein Ib-β / thrombocytopenia / complex repeat / psychotic disorder / 22番染色体低頻度反復配列 / リンパ球幼若化能 / 円錐動脈幹異常顔貌症候群 / DiGeorge症候群 / 欠失範囲
Research Abstract

Conotruncal anomaly face syndrome (CAFS), DiGeorge syndrome (DGS), and velo-cardio-facial syndrome have similar but varying phenotypic spectra, I.e., cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia, and share deletion of 22q11.2 as a common feature. The aim of this study was to elucidate disease gene, phenotype/genotype correlation and deletion mechanism in del 22q11.2 syndrome.
We investigated the genome sequence of a candidate gene for del 22q11.2 syndrome, TBX1, in patients with DGS or CAFS/VCFS without the 22q11.2 deletion. We found three de novo point mutations of TBX1 in three sporadic and familial patients. To our knowledge, this is the first report showing that mutations of TBX1 could be responsible for del 22q11.2 syndrome.
To elucidate whether thrombocytopenia in del 22q11.2 syndrome patients is due to the hemizygosity of glycoprotein Ib-β and clarify the correlation between the phenotype and genotype of this gene in del 22q11.2 syndrome patie … More nts with thrombocytopenia, we also measured the protein level of glycoprotein Ib-β in del 22q11.2 syndrome patients and controls, and analyzed phenotypes other than thrombocytopenia in these patients. The results showed that thrombocytopenia in patients with del 22q11.2 syndrome, who had a larger mean platelet volume, lower agglutination to ristocetin than control patients, is due to decreased expression of glycoprotein Ib-β. Since patients with del 22q11.2 syndrome show an increased risk of developing a psychotic disorder, patients with thrombocytopenia require total management, especially for the psychotic disorders.
In this study, we also showed in more detail that the chromosome breakpoints of del 22q11.2 syndrome occurred within two complex repeats, LCR22-2 and LCR22-4, that are 3 Mb apart and that the deletions arose from unequal meiotic recombination events. It is important to determine whether the chromosome breakpoints occur in clustered regions or at random sites of sequence homology, since elucidation of the mechanism in which the deletion generated is necessary. Less

Report

(3 results)
  • 2002 Annual Research Report   Final Research Report Summary
  • 2001 Annual Research Report
  • Research Products

    (25 results)

All Other

All Publications (25 results)

  • [Publications] Kato T: "Thrombocytopenia in patients with deletion 22q11.2 syndrome and its association with glycoprotein Ib-β"Genet Med. (in press).

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] 古谷喜幸: "22q11.2欠失症候群における欠失範囲の検索"東京女子医科大学雑誌. 72. 108-116 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] 松岡瑠美子: "「22q11.2欠失を伴う先天性心疾患児における免疫能の検討」の重要性"日本小児循環器学会雑誌. 18. 9-12 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Natarajan A: "Human eHAND, but not dHAND, is down-regulated in cardiomyopathies"J Mol Cell Cardiol. 33. 1607-1614 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Momma K: "Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults"Genet Med. 3. 56-60 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] 小坂和輝: "22q11.2欠失症候群と血小板減少及びその機能異常"東京女子医科大学雑誌. 71. 16-28 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] 松岡瑠美子: "22番染色体長腕部分欠失症候群(DiGeorge・円錐動脈幹異常顔貌・軟口蓋心臓顔貌症候群).小児の症候群"小児科診療. 増刊号.64Suppl. 75 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] 松岡瑠美子: "22q11.2欠失症候群の包括的遺伝子医療: Highlight The 5^<th> Kyoto Symposium"Novocare. 7-9 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] 松岡瑠美子: "南山堂医学大事典:DiGeorge症候群"南山堂(印刷中).

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] 松岡瑠美子: "ガイドラインに基づく成人先天性心疾患の臨床 門間和夫編:成因、遺伝性"中外医学社. 15 (2001)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Taichi Kato: "Thrombocytopenia in patients with deletion 22q11.2 syndrome and its association with glycoprotein Ib-β."Genet Med.. (in press).

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Yoshiyuki Furutani: "Deletion breakpoint analysis in 22q11.2 deletion syndrome."J Tokyo Wom Med Univ. 72. 108-116 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Rumiko Matsuoka: "The significance of "The study for immunity of congenital heart disease patients with the deletion 22q11.2.""Ped Cardiol Card Surg. 18. 9-12 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Aruna Natarajan: "Human eHAND, but not dHAND, is down-regulated in cardiomyopathies."J Mol Cell Cardiol.. 33. 1607-1614 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kazuo Momma: "Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults."Genet Med.. 3. 56-60 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kazuki Kosaka: "Thrombocytopenia and platelet dysfunction in del 22q11.2 syndrome patients."J Tokyo Wom Med Univ. 71. 16-28 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Rumiko Matsuoka: "22q11.2 deletion syndrome (DiGeorge conotruncal anomaly face syndrome velo-cardio-facial syndrome)."J Pediat Pract.64 Suppl.. 75. (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Rumiko Matsuoka: "Holistic molecular genetic medicine in del 22q11.2 syndrome. Highlight The 5th Kyoto Symposium"Novocare. 7-9 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kato T: "Thrombocytopenia in patients with deletion 22q11.2 syndrome and its association with glycoprotein Ib-β"Genet Med. (in press).

    • Related Report
      2002 Annual Research Report
  • [Publications] 古谷喜幸: "22q11.2欠失症候群における欠失範囲の検索"東京女子医科大学雑誌. 72. 108-116 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] 松岡瑠美子: "「22q11.2欠失を伴う先天性心疾患児における免疫能の検討」の重要性"日本小児循環器学会雑誌. 18. 9-12 (2002)

    • Related Report
      2002 Annual Research Report
  • [Publications] 松岡瑠美子: "南山堂医学大辞典:DiGeorge症候群"南山堂(印刷中).

    • Related Report
      2002 Annual Research Report
  • [Publications] 古谷喜幸: "22q11.2欠失症候群における欠失範囲の検索"東京女子医科大学雑誌. (印刷中).

    • Related Report
      2001 Annual Research Report
  • [Publications] Natarajan A: "Human eHAND, but not dHAND, is Down-regulated in Cardiomyopathy"J Moll Cell Cardiol. 33. 1607-14 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 小坂和輝: "22q11.2欠失症候群と血小板減少及びその機能異常"東京女子医科大学雑誌. 71. 16-28 (2001)

    • Related Report
      2001 Annual Research Report

URL: 

Published: 2001-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi