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A study concerning the association between genotype and phenotype in the inherited ocular diseases

Research Project

Project/Area Number 10671656
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Ophthalmology
Research InstitutionHamamatsu University School of Medicine (2000)
Juntendo University (1998-1999)

Principal Investigator

HOTTA Yoshihiro  HAMAMATSU UNIV.SCHOOL OF MED., INSTRUCTOR, 医学部, 教授 (90173608)

Co-Investigator(Kenkyū-buntansha) KAWANO Toshio  HAMAMATSU UNIV.SCHOOL OF MED., ASSISTANT, 医学部・附属病院, 助手 (50303566)
KATO Masaru  HAMAMATSU UNIV.SCHOOL OF MED., ASSOCATE PROFESSOR, 医学部, 助教授 (60161121)
佐久間 仁  順天堂大学, 医学部, 講師 (60235207)
中安 清夫  順天堂大学, 医学部, 助教授 (10124976)
早川 むつ子  順天堂大学, 医学部, 講師 (60095825)
Project Period (FY) 1998 – 2000
Project Status Completed (Fiscal Year 2000)
Budget Amount *help
¥3,100,000 (Direct Cost: ¥3,100,000)
Fiscal Year 2000: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1999: ¥600,000 (Direct Cost: ¥600,000)
Fiscal Year 1998: ¥1,900,000 (Direct Cost: ¥1,900,000)
KeywordsRetinal dystrophy / Corneal dystrophy / Genetic heterogeneity / Gene / Mutation / Glaucoma / Color anomaly / Leber's disease / Avellino角膜ジストロフィ / 顆粒状角膜ジストロフィ / Reis-Bucklers角膜ジストロフィ / 格子状角膜ジストロフィ / 膠様滴状角膜ジストロフィ / TGFBI遺伝子 / M1S1遺伝子 / レーベル先天盲 / 網膜分離症 / コロイデレミア / RETGC遺伝子 / XLRS1遺伝子 / βIGH3遺伝子 / REP1遺伝子
Research Abstract

Most cases with choroideremia, juvenile retinoschisis and fundus albipunatatus (FA) were caused by the mutations of REP-1, XLRS1 and RDH5 genes respectively. No genotype-phenotype co-relation was recognized in these three diseases. Cone dysfunction was sometimes associated with FA.Since genetic analysis revealed that most of cases with FA associate cone dysfunction in their forties, FA is not stationary but progressive disease.
Tight genotype-phenotype co-relation was recognized in the corneal dystophies. Granular, Avellino, lattice type 1, lattice type 3, Reis-Bucklers corneal dystrophies were caused by R555W, R124H, both R124C and L518P, L527R, R555Q mutations of βig-h3 gene respectively. Homozygote of the R124H mutation of the βig-h3 gene shows severe clinical finding. Although most of lattice type 3 corneal dystrophy in Kansai area were caused by a P501T mutation of the βig-h3 gene, cases in Kanto and Chubu area were caused by the L527R mutation.
Myocilin/TIGR gene mutations were found in glaucoma patients at the rate of 3%, not so high. Genetic heterogeneity is observed in glaucoma patients and no genotype-phenotype co-relation was recognized. Large deletion in promoter area of the red green gene was recognized in a Japanese family with blue-cone monochromatism. Leber hereditary optic neuropathy caused by the mitochondria mutations in nucleotide position 14484 and 3460. No genotype-phenotype co-relation was recognized in our cases.

Report

(4 results)
  • 2000 Annual Research Report   Final Research Report Summary
  • 1999 Annual Research Report
  • 1998 Annual Research Report
  • Research Products

    (44 results)

All Other

All Publications (44 results)

  • [Publications] Fujita T.,Ohtani-Fujita N.,Sakai T., et al.: "Low frequency of oncogenic mutation in the core promoter region of the RBl gene."Hum Mutat. 13. 410-411 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Yamada K.,Mashima Y.,Hotta Y., et al.: "Frequency of three primary mutations of mitochondrial DNA in Japanese pedigrees with Leber's hereditary optic neuropathy : A four-institution study in Japan"J Neuro-Ophthalmol. 22. 187-193 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Hirano K,Hotta Y,Fujiki K,Kanai A: "Corneal amyloidosis caused by Leu518Pro mutation of βig-h3 gene."Br J Ophthalmol. 84. 583-585 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Kubota R,Mashima Y,Ohtake Y, et al.: "Novel mutations in the myocillin gene in Japanese glaucoma patients."Human Mutat. #355. (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Fujiki K,Hotta Y,Nakayasu K, et al.: "Six different mutations of βIGH3 gene found in Japanese corneal dystrophies."Cornea. 19. 842-845 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Nakamura M,Hotta Y,Tanikawa A, et al.: "A high association with cone dystrophy in fundus albipunctatus caused by mutation of the RDH5 gene."Invest Ophthalmol Vis Sci. 41. 3925-3932 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Hotta Y,Nakamura M,Okamoto Y, et al.: "Different mutations of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks."Br J Ophthalmol. 85. 238-239 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Hotta Y.,Fujiki K.,Hayakawa M et al.: "Retinal Degenerative Diseases and Experimental Therapy"Plenum Press. 587 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] 堀田喜裕: "眼科診療プラクティス52"文光堂. 152 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Fujita T., Ohtani-Fujita N., Sakai T., et al.: "Low frequency of oncogenic mutation in the core promoter region of the RB1 gene."Hum Mutat. 13. 410-411 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Yamada K., Mashima Y., Hotta Y., et al.: "Frequency of three primary mutations of mitochondrial DNA in Japanese pedigrees with Leber's hereditary optic neuropathy : A four-institution study in Japan"J Neuro-Ophthalmol. 22. 187-193 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Hirano K, Hotta Y, Fujiki K, Kanai A: "Corneal amyloidosis caused by Leu518Pro mutation of βig-h3 gene."Br J Ophthalmol. 84. 583-585 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Kubota R, Mashima Y, Ohtake Y, et al.: "Novel mutations in the myocillin gene in Japanese glaucoma patients."Human Mutat. #355. (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Fujiki K, Hotta Y, Nakayasu K, et al.: "Six different mutations of βIGH3 gene found in Japanese corneal dystrophies."Cornea. 19. 842-845 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y: "A high association with cone dystrophy in fundus albipunctatus caused by mutation of the RDH5 gene."Invest Ophthalmol Vis Sci. 41. 3925-3932 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Hotta Y, Nakamura M, Okamoto Y, et al.: "Different mutations of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks."Br J Ophthalmol. 85. 238-239 (2001)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2000 Final Research Report Summary
  • [Publications] Fujita T.,Ohtani-Fujita N.,Sakai T., et al.: "Low frequency of oncogenic mutation in the core promoter region of the RB1 gene. 13 : 410-411,1999."Hum Mutat. 13. 410-411 (1999)

    • Related Report
      2000 Annual Research Report
  • [Publications] Yamada K.,Mashima Y.,Hotta Y., et al.: "Frequency of three primary mutations of mitochondrial DNA in Japanese pedigrees with Leber's hereditary optic neuropathy : A four-institution study in Japan"J Neuro-Ophthalmol. 22. 187-193 (1999)

    • Related Report
      2000 Annual Research Report
  • [Publications] Hirano K,Hotta Y,Fujiki K,Kanai A: "Corneal amyloidosis caused by Leu518Pro mutation of βig-h3 gene."Br J Ophthalmol. 84. 583-585 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Kubota R,Mashima Y,Ohtake Y, et al.: "Novel mutations in the myocillin gene in Japanese glaucoma patients."Human Mutat. #355. (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Fujiki K,Hotta Y,Nakayasu K, et al.: "Six different mutations of β IGH3 gene found in Japanese corneal dystrophies. 19 : 842-845, 2000."Cornea. 19. 842-845 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Nakamura M,Hotta Y,Tanikawa A,Terasaki H,Miyake Y: "A high association with cone dystrophy in fundus albipunctatus caused by mutation of the RDH5 gene. 41 : 3925-3932, 2000."Invest Ophthalmol Vis Sci. 41. 3925-3932 (2000)

    • Related Report
      2000 Annual Research Report
  • [Publications] Hotta Y,Nakamura M,Okamoto Y,et al.: "Different mutations of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks."Br J Ophthalmol. 113-114 (2001)

    • Related Report
      2000 Annual Research Report
  • [Publications] Hotta Y.,Fujiki K.,Hayakawa M et al.: "Retinal Degenerative Diseases and Experimental Therapy"Plenum Press. 587 (1999)

    • Related Report
      2000 Annual Research Report
  • [Publications] 堀田喜裕: "眼科診療プラクティス52"文光堂. 152 (1999)

    • Related Report
      2000 Annual Research Report
  • [Publications] Endo S, Ha NT, Fujiki K, Hotta Y, et al.: "Leu 518 Pro Mutation of the βig-h3 gene causes lattice corneal dystrophy type I"Am. J. Ophthalmol.. 128(1). 104-106 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Hayakawa M, Fujiki K, Hotta Y, et al.: "Visual inpairment and REP-1 gene mutations in Japanese choroideremia patients"Ophthalmic Genet.. 20(2). 107-115 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Fujiki K, Hotta Y, Hayakawa M, et al.: "REP-1 gene mutation in Japanese patient with choroideremia."Graefe's Arch. Clin. Exp. Ophthalmol. 237. 735-740 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] 武谷亮、横山利幸、堀田喜裕、 他: "XLRS1遺伝子検索により診断できた先天網膜分離症の1例"日眼会誌. 103(11). 817-820 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Ha NT, Fujiki K, Hotta Y, et al.: "Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy. The P501T of TGFBI gene found in a family with GDLD"Am J Ophthalmol. (in press). (2000)

    • Related Report
      1999 Annual Research Report
  • [Publications] Fujiki K,Hotta Y,et al: "Homozygotic patient with βig-h3 gene mutation in granular dystrophy" Cornea. 17(3). 288-292 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Fujiki K,Hotta Y,et al: "A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities" Hum Genet. 103. 286-289 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Matsumoto M,Hayasaka S,et al: "Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778" J Hum Genet. 43. 242-245 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Fujiki K,Hotta Y,et al: "REP-1 gene mutations in Japanese patients with choroideremia" Graefe′s Arch Clin Ophthalmol. (in press). (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Endo S,Ha NT,et al: "Leu518Pro mutation of the βig-h3 gene causes lattice corneal dystrophy type I" Am J Ophthalmol. (in press). (1999)

    • Related Report
      1998 Annual Research Report
  • [Publications] 堀田 喜裕: "網膜ジストロフィと遺伝" 日本の眼科. 69(12). 1411-1415 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Fujiki K,Hotta Y,et al: "Analysis of Peripherin / RDS gene for Japanese retinal dystrophies." Jpn J Ophthalmol. 42. 186-192 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 堀田 喜裕: "これまでわかったコロイデレミアの原因遺伝子異常" 眼科臨床医のためのやさしい分子生物学. 120-122 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 堀田 喜裕: "遺伝相談に必要な知識" 眼科診療便利手帳(診断と治療社). 176 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 堀田 喜裕: "色覚異常の分子生物学" 医学のあゆみ. 186. 201-205 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Hotta Y,et al: "Arg124Cys mutation of the βig-h3 gene in a Japanese family with lattice corneal dystrophy Type I" Jpn J Ophthalmol. 42. 450-455 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Hotta Y,et al: "Japanese juvenile retinoschisis is caused by mutations of the XLRSI gene" Hum Genet. 103. 142-144 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 堀田 喜裕: "眼科" 脈絡膜ジストロフィ, 7 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] 堀田 喜裕: "小児内科" レーベル遺伝性視神経萎縮症(Leber病), 5 (1998)

    • Related Report
      1998 Annual Research Report

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Published: 1998-04-01   Modified: 2016-04-21  

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