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The elucidation of pathoenic mechanism of cranio-maxillo-facial anomdy and the applicaton for gene diagnosis

Research Project

Project/Area Number 13672081
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Surgical dentistry
Research InstitutionThe University of Tokyo

Principal Investigator

MOTI Yoshiyuki  The University of Tokyo, Faculty of Medicine, Lecturer, 医学部附属病院, 講師 (70251296)

Co-Investigator(Kenkyū-buntansha) YAMAZAKI Yasuharu  The University Kitasato, Plastio surgery, Lecturer, 医学部, 講師 (00210401)
TOKUNAGA Katsushi  The University of Tokyo, Human Genetics, Professor, 大学院・医学系研究科, 教授 (40163977)
TAKATO Tsuyoshi  The University of Tokyo, Faculty of Medicine, Professor, 医学部附属病院, 教授 (90171454)
SAKAI Naohiko  The University Kitasato, Plastio surgery, Lecturer, 医学部, 講師 (10265639)
SUSAMI Takafumi  The University of Tokyo, Faculty of Medicine, Assistant Professor, 医学部附属病院, 助教授 (80179184)
Project Period (FY) 2001 – 2002
Project Status Completed (Fiscal Year 2002)
Budget Amount *help
¥2,600,000 (Direct Cost: ¥2,600,000)
Fiscal Year 2002: ¥1,000,000 (Direct Cost: ¥1,000,000)
Fiscal Year 2001: ¥1,600,000 (Direct Cost: ¥1,600,000)
Keywordsgene / mutation / FGFRS / craniosynostosis / cleidoranial dysplasia / CBFAI / Homeobox / 口唇裂 / 口唇口蓋裂 / MSXI / DLX2
Research Abstract

The purpose of this study is to systematically analysis for candidate gene of a series of congenital morphological anomaly.
Craniosynostosis is the pathologic condition that results from premature fusion of one or more cranial sutures. Recently, mutations of the fibroblast growth factor receptor (FGFR) genes have been detected in syndromic craniosynostosis. The fibroblast growth factor(FGF) and FGFR regulate multiple cellular activities, cell growth and embryonal development. Firstly, we examined nucleotide sequences of FGFR2 in Japanese craniosynostosis patients (Crouzon syndrome : 9 cases, Apert syndrome : 6 cases and scaphocephaly : 3 cases as non-syndromic patients) by polymerase chain reaction (PCR) followed by direct sequencing methods. The results demonstrated FGFR2 heterozygous mutations at codons 252, 290 of exon 7, and at codon 342, 354 of exon 9 in Crouzon syndromes, in Apert syndrome patients, Ser252Trp and Pro253Arg were detected in five and one patients, respectively. No m … More utation was detected in one case of Crouzon, all cases of scaphocephaly and healthy individuals. Thus far sequence analysis of FGFR2 in syndromic craniosynostosis has been reported in many Caucasian patients, whereas in Japanese only several cases have been studied. The present study with IS patients confirmed mat a similar series of mutations occur in Japanese patients as in Caucasian patients regardless of ethnicity and environment. The frequency of the mutation was 82% (9/11 cases) in Japanese Crouzon patients. The ratio of S252W : P253R was 5 : 1 in Japanese Apert patients. Morever, in Japanese Apert patients, complication rate of cleft palate was 60% for mutation of Ser252Trp and 0/2 of patients for Pro253Arg, with their syndactyly score being 4.90 and 5.50, respectively.
Homeobox (HOX) gene has the role which is important for the morphogenesis in the embryonic stage. Secondary, hand anomaly of Apert syndrome was suspected as cause of HOXA13 and HOXD13 gene, so we analyzed them. Moreover, we also analyzed MSX1(HOX7) gene as cause of cleft palate in Apert syndrome. We detected several polymorphism and mere were possibility of different frequency between Apert group and healthy control group.
Next subject, cleidocranial dysplasia (CCD) is an autosomal dominant human bone disease characterized by hypoplastic or aplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal disorders. Recently, various mutations of the core binding factor (CBFAI) gene have been detected in CCD patients. The CBFAI gene is a member of the runt family of transcription factors. We experienced one Japanese case of CCD with open sutures, hypoplasia of clavicles and brachydactyly, combined with atlant-axis dislocation. We performed the sequence analysis of the CBFAI gene and detected a missense mutation of R225W in exon 3. Less

Report

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

    (7 results)

All Other

All Publications (7 results)

  • [Publications] 森 良之: "ラ蝕・歯髄炎"Medical Practice. 18(5). 871-875 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 森 良之: "口腔癌"Medical Practice. 18(6). 871-875 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 江口智明, 高戸毅, ほか: "口唇裂,口蓋裂治療における出生前から唇裂初回手術までのチーム医療"形成外科. 45(2). 125-130 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 大守誠, 高戸毅, ほか: "成長とともに鼻咽腔閉鎖機能不全を呈した片側軟口蓋形成不全の1症例"日本形成外科学会会誌. 21(7). 454-458 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 引地尚子, 高戸毅, ほか: "口蓋床を利用した口唇形成術前の悲観血的外鼻形成法"日本口腔外科学会雑誌. 47(3). 203-205 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] T.Eguchi, H.Asato, A.Takushina, T.Takato, et al.: "Surgical repair for congenital macrostoma : A vermilion square flop method"Annals of Plastic Surgery. 47. 629-635 (2001)

    • Related Report
      2001 Annual Research Report
  • [Publications] 高戸毅編著: "唇裂鼻の治療-臨床像と手術-"克誠堂出版. 254 (2001)

    • Related Report
      2001 Annual Research Report

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

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