1998 Fiscal Year Final Research Report Summary
Genetic analysis of skeletal dysplasias
| Project/Area Number |
09470308
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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 | The University of Tokyo |
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Principal Investigator |
IKEGAWA Shiro Institute of Medical Science, The University of Tokyo, Research Associate, 医科学研究所, 助手 (30272496)
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| Project Period (FY) |
1997 – 1998
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| Keywords | genetic analysis / pseudoachondroplasia / skeletal dysplasia / chondrodysplasia / gene / mutation |
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| Research Abstract |
I performed the genetic analysis of skeletal dysplasias, genetic disorders of bone and cartilage, and obtained the following results.
1. I found a mutation of type X collagene gene (COL 10A1) in a patient with spondylometaphyseal dysplasia. This is the first report of identification of mutation in this condition.
2. Several mut : tions of the COL 10A1 have been reported in patients with Schmid metaphyseal cnondrodysplasia, but all of them are situated in the C-terminal globular domain of the type X collagen. I identified two novel missense mutations in the N-terminal globular domain. The N-terminal domain also plays an important role in formation of type X collagen.
3. I identified 8 mutations of the COMP(cartilage oligomeric matrix protein)gene in pseudoachondroplasia (PAP) ; three of them were reccurrent and five novel. Through the analysis of mutations, I found a genotype-phenotype correlation.
4. Mutation of the COMP gene has been identified in PAP ; however, clinical and genetic heterogeity has been reported in PAP, indicating a possible presence of the second PAP gene. I have found a patient with a PAP who had a de novo interstitial deletion in the long arm of chromosome 11 [del(11)(q22.2)]. The size of the deletion was estimated approximately 7-Mb using fluorescence in situ hybridization (FISH). The second PAP gene, which was disrupted in the patient may be located at the breakpoints of the deletion.
5. I identified a novel COMP mutation in a patient with multiple epiphyseal dysplasia.
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