2003 Fiscal Year Final Research Report Summary
Analysis of disease genes for skeletal dysplasias
| Project/Area Number |
14370476
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Orthopaedic surgery
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| Research Institution | RIKEN |
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Principal Investigator |
IKEGAWA Shiro RIKEN, Laboratory for Bone and Joint Diseases, Laboratory Head, 変形性関節症関連遺伝子研究チーム, チームリーダー (30272496)
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| Project Period (FY) |
2002 – 2003
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| Keywords | genetic diagnosis / skeletal dysplasia / bone and joint disease / mutation / pseudoachondroplasia / MED / COMP / COL2A1 |
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| Research Abstract |
To establish a system for DNA diagnosis of skeletal dysplasias, genetic disorders of bone and cartilage, and gain insight for their pathogenesis, I performed genetic analysis of skeletal dysplasias and obtained the following results.
1.Direct sequencing is not always reliable. Allele specific PCR amplification could occur due to sequence identity between a PCR primer and an amplicon.
2.We identified 3 novel EBP mutations in X-linked dominant chondrodysplasia punctata and found skewed X-chromosome inactivation causes intra-familial phenotypic variation.
(1)We identified 9 novel COMP mutations in pseudoachondroplasia and MED (multiple epiphyseal dysplasia) and genotype-phenotype association.
(2)We identified for the first time that platyspondylic skeletal dysplasia, Torrance type is caused by COL2A1 mutation.
(3)We found novel mutations in the following disease:
(4)COL2A 1 in hypochondrogenesis、 spondyloepiphyseal dysplasia congenita、 Kniest dysplasia、Stickler syndrome and spondyloepiphyseal dysplasia tarda.
(5)MAIN3 and COL9A3 in MED.
(6)RMRP in Cartilage-Hair ].
(7)TGFB1 in Camurati-Engelmann disease.
(8)SBDS in Shwachman-Diamond syndrome.
3.We found circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.
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Research Products
(30 results)
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[Publications] Shirahama S, Miyahara A, Kitoh H, Honda A, Kawase A, Yamada K, Mabuchi A, Kura H, Yokoyama Y, Tsutsumi M, Ikeda T, Tanaka N, Nishimura G, Ohashi H, Ikegawa S.: "Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata."Hum Genet. 112(1). 78-83 (2003)
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「研究成果報告書概要(欧文)」より
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[Publications] Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, Ikegawa S.: "Novel types of COMP mutations and genotype-phenotype associtation in pseudoachondroplasia and multiple epiphyseal dysplasia."Hum Genet. 112(1). 84-90 (2003)
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[Publications] Nishimura G, Kizu R, Kijima Y, Sakai K, Kawaguchi Y, Kimura T, Matsushita I, Shirahama S, Ikeda T, Ikegawa S, Hasegawa T.: "Spondyloepiphyseal dysplasia Maroteaux type : Report of three patients from two families and exclusion of type II collagen defects."Am J Med Genet. 120A(4). 498-502 (2003)
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「研究成果報告書概要(欧文)」より
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[Publications] Nishimura G, Nakashima B, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S.: "Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type."J Med Genet. 41(1). 75-79 (2004)
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「研究成果報告書概要(欧文)」より
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[Publications] Kinoshita A, Shirahama 5, Miyahara S, Haga N, Namba A, Ueda H, Hayashi H, Seidel J, Fukumaki Y, Yoshiura K, Ikegawa S, Niikawa N.: "TGFBI mutations in four new families with Camurati-Engelmann disease : Confirmation of independently arising LAP-domain-specific mutations."Am J Med Genet. (in press).
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