2007 Fiscal Year Final Research Report Summary
Identification of the genes for skeletal dysplasia and onstruction of its diagnostic system
| Project/Area Number |
18390423
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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 Institute of Physical and Chemical Research |
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Principal Investigator |
MIYAMOTO Yoshinari The Institute of Physical and Chemical Research, Laboratory for Bone and Joint diseases, visiting scientist (10345217)
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| Co-Investigator(Kenkyū-buntansha) |
IKEGAWA Shiro RIKEN, Laboratory for Bone and Joint diseases, Laboratory head (30272496)
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| Project Period (FY) |
2006 – 2007
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| Keywords | genome / genetics / gene / surgery / skeletal dysplasia |
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| Research Abstract |
We identified the disease gene for skeletal dysplasia, and examined the mutation spectrum of the gene. The main results are as follows.
1) We made a comprehensive analysis of MED and clarified its genotype-phenotype association.
2) We discovered that DTD mutations cause an intermediate phenotype beiween atelosteogenesis type II and diastrophic dysplasia.
3) We clarified a phenotypic spectrum of sponcYlo-costal dysplasia.
4) We found novel mutations in patients with Martin disease.
5) We found novel RMPM mutations in cartilage-hair hypoplasia.
6) We discovered that SBDS is responsible for spondy lo meta physeal dysplasia, sedagafian type.
7) We discovered that SLC35D1 causes Schneckenbecken dysplasia.
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