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Screening and characterization of disease gene in del 22q11.2 syndrome.

Research Project

Project/Area Number 09670843
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, Pediatric Cardiology, Assistant, 医学部, 助手 (50120051)

Co-Investigator(Kenkyū-buntansha) MOMMA Kazuo  Tokyo Women's Medical University, Pediatric Cardiology, Professor, 医学部, 教授 (80075233)
IMAMURA Shin-ichiro  Tokyo Women's Medical University, Research Division, Assistant, 医学部, 助手 (00176497)
Project Period (FY) 1997 – 1998
Project Status Completed (Fiscal Year 1998)
Budget Amount *help
¥3,000,000 (Direct Cost: ¥3,000,000)
Fiscal Year 1998: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 1997: ¥1,700,000 (Direct Cost: ¥1,700,000)
Keywordsdel 22q11.2 syndrome / conotruncal anomaly face syndrome / DiGeorge syndrome / FISH / congenital heart defect / cardiovascular anomalies / craniofacial defect / haploinsufficiency / 円錐動脈幹顔貌症候群
Research Abstract

To investigate molecular and clinical aspects of conotruncal anomaly face (CAF), we studied the correlation between deletion size and phenotype and the mode of inheritance in 180 conotruncal anomaly face syndrome (CAFS) patients. In CAFS patients, the most frequently observed anomalies were tetralogy of Fallot (TOF) (74%). Conversely, in DiGeorge syndrome (DGS) probands with deletion of 22q11.2, the most frequent cardiovascular anomalies found were interruption of the aortic arch type B (41%), and TOF (29%).
Hemizygosity for a region of 22q11.2 was found in 180 (98%) of the patients with CAFS by fluorescent in situ hybridization (FISH), using 20 DiGeorge critical region probes. Ninety-one percent had a distal breakpoint (type-A), 4% had an intermediate breakpoint (type-B), 6% more proximal breakpoints (types C,D and E). All DGS and CAFS patients with schizophrenia fell into the type-A group. No familial cases were found among CAFS patients with absent thymus/DGS, which indicates that extragenic factors may play a role in the genesis of phenotypic variability, especially in patients with cardiovascular anomalies. Also, no difference in deletion size was found among the same family members in the familial CAFS cases, although they had different phenotypes (type-A : 53% ; type-B : 32% ; type-C : 16%). The findings of this study indicated that CAF was almost always associated with the deletion of 22q11.2.
The UFDIL gene was deleted in l80patients studied with 22q11.2 deletion, and a smaller deletion of approximately 20 kb that removed exons 1 to 3 of UFDIL was found in one individual with features typical of del 22q11.2 syndrome. These data suggest that UFDIL haploinsufficiency contributes to the congenital heart and craniofacial defects seen in 22q11.2 deletion.

Report

(3 results)
  • 1998 Annual Research Report   Final Research Report Summary
  • 1997 Annual Research Report
  • Research Products

    (47 results)

All Other

All Publications (47 results)

  • [Publications] Hiroyuki Yamagishi: "A molecular pathway revealing a genetic basic for human cardiacand craniofacial defects." Science. 283. 1158-1161 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 松岡瑠美子: "先天性心血管疾患と遺伝子異常" Heart View. 3. 46-52 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Rumiko Matsuoka: "Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome." Hum.Genet.103. 70-80 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hiroyuki Yamagishi: "CATCH22 in monozygotic twins manifesting discordant phenotypes." Am.J.Med.Genet.78. 319-321 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Kazumasa Iwai: "Mental disorders of del22q11.2 syndrome(CATCH22) : Cross-sectional and longitudinal observation of 8 cases." J.Tokyo. Wom.Med.Univ.68. 338-345 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 岩井一正: "22q11.2欠失症候群(CATCH22)の精神障害" 精神医学. 40. 167-174 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 松岡瑠美子: "DiGeorge syndrome" 診断と治療 増刊号. 86. 763-764 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Kazuo Momma: "Truncus arteriosus communis associated with chromosome 22q11 deletion." J.Am.Col.Cardiol.30. 1067-1071 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 松岡瑠美子: "先天性心疾患の遺伝子診断" SRL宝函. 21. 121-129 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 松岡瑠美子: "22q11.2欠失症候群(CATCH22)" 小児科診療. 7. 1125-1131 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 松岡瑠美子: "DiGeorge症候群の病因" 小児内科. 29. 969-976 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 松岡瑠美子: "DNA診断" 小児科臨床 別冊. 50. 243-253 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 松岡瑠美子: "顔貌の異常" 小児科診療 増刊号. 60. 165-170 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Atsuyoshi Takao: "In Proceedings of the Second World Congress of Pediatric Cardiology and Cardiac Surgery." Imai Y, Momma K, 8 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Kazuo Momma: "In Proceedings of the Second World Congress of Pediatric Cardiology and Cardiac Surgery." Imai Y, Momma K, 3 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 松岡瑠美子: "臨床発達心臓病学(改訂2版)" 高尾篤良, 24 (1997)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hiroyuki Yamagishi: "A molecular pathway revealing a genetic basic for human cardiac and craniofacial defects." Science. 283. 1158-1161 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Rumiko Matsuoka: "Congenital cardiovascular defects and gene abnormalities." Heart View. 3. 46-52 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Rumiko Matsuoka: "Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome." Hum.Genet.103. 70-80 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hiroyuki Yamagishi: "CATCH22 in monozygotic twins manifesting discordant phenotypes." Am.J.Med.Genet.78. 319-321 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Kazumasa Iwai: "Mental disorders of del 22q11.2 syndrome (CATCH22) : Cross-sectional and longitudinal observation of 8 cases." J.Tokyo.Wom.Med.Univ.68. 338-345 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Kazumasa Iwai: "Mental disorders of del 22q11.2 syndrome (CATCH22)" Clinical Psychiatry. 40. 167-174 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Atsuyoshi Takao: "Conotruncal anomaly face syndrome. Chromosome 22q11 deletion." Proceedingsof the Second World Congress of Pediatric Cardiology and Cardiac Surgery. Imai Y,Momma K,eds.Futura.NY. 4-10 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Kazuo Momma: "Congenital heart disease associated with chromosome 22q11 deletion." Proceedingsof the Second World Congress of Pediatric Cardiology and Cardiac Surgery. Imai Y,Momma K,eds.Futura.NY. 409-411 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Rumiko Matsuoka: "DiGeorge syndrome" Diagnosis and Treatment. 86/Suppl. 763-764 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Kazuo Momma: "Truncus arteriosus communis associated with chromosome 22q11 deletion." J.Am.Col.Cardiol.30. 1067-1071 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Rumiko Matsuoka: "Congenital cardiac defect and genetic diagnosis : del 22q11.2 syndrome." Jpn.Circ.J.61. 82 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Rumiko Matsuoka: "Congenital cardiovascular defects and gene abnormalities." SRL Hokan. 21. 121-129 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Rumiko Matsuoka: "del 22q11.2 syndrome (CATCH22)" J.Pediat.Pract.7. 1125-1131 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Rumiko Matsuoka: "DiGeorge syndrome" Jpn.J.Pediat.Med.29. 969-976 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Rumiko Matsuoka: "DNA diagnosis" Jpn.J.Pediat.50. 243-253 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Rumiko Matsuoka: "Face abnormalities" J.Pediat.Oract.60/Suppl. 165-170 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Rumiko Matsuoka: "The etiology of congenital cardiac defects and genetic counseling" Clinical Developmental Cardiology (2nd). 92-102 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Hiroyuki Yamagishi: "A molecular pathway revealing a genetic basic for human cardiac and craniofacial defects." Science. 283. 1158-1161 (1999)

    • Related Report
      1998 Annual Research Report
  • [Publications] 松岡瑠美子: "先天性心血管疾患と遺伝子異常" Heart View. 3. 46-52 (1999)

    • Related Report
      1998 Annual Research Report
  • [Publications] Rumiko Matsuoka: "Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome." Hum.Genet.103. 70-80 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Hiroyuki Yamagishi: "CATCH22 in monozygotic twins manifesting discordant phenotypes." Am.J.Med.Genet.78. 319-321 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Kazumasa Iwai: "Mental disorders of del22q11.2 syndrome(CATCH22): Cross-sectional and longitudinal observation of 8 cases." J Tokyo Wom Med Univ. 68. 338-345 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 岩井一正: "22q11.2欠失症候群(CATCH22)の精神障害" 精神医学. 40. 167-174 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 松岡瑠美子: "DiGeorge syndrome" 診断と治療 増刊号. 86. 763-764 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Atsuyoshi Takao: "In Proceedings of the Second World Congress of Pediatric Cardiology and Cardiac Surgery" Imai Y,Momma K, 8 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Kazuo Momma: "In Proceedings of the Second World Congress of Pediatric Cardiology and Cardiac Surgery." Imai Y,Momma K, 3 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 松岡瑠美子: "先天性心疾患の遺伝子診断" SRL宝函. 21. 121-129 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 松岡瑠美子: "DNA診断" 小児科臨床. 50. 757-767 (1997)

    • Related Report
      1997 Annual Research Report
  • [Publications] 松岡瑠美子: "DiGeorge syndrome・CATCH22・del22q11.2 syndrome" 小児科診療. (印刷中).

    • Related Report
      1997 Annual Research Report
  • [Publications] Hiroyuki Yamagishi: "CATCH22 in monozygotic twin manifesting discordant phenotypes." Am.J.Med.Genet.(in press).

    • Related Report
      1997 Annual Research Report
  • [Publications] 松岡瑠美子: "臨床発達心臓病学 第2版" 高尾篤良, 24 (1997)

    • Related Report
      1997 Annual Research Report

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Published: 1997-04-01   Modified: 2016-04-21  

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