2011 Fiscal Year Final Research Report
Exploring for the causative gene of Kenny-Caffey syndrome type2
| Project/Area Number |
22790967
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | The University of Tokyo |
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Principal Investigator |
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| Co-Investigator(Renkei-kenkyūsha) |
KITANAKA Sachiko 東京大学, 医学部附属病院, 准教授 (30431638)
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| Project Period (FY) |
2010 – 2011
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| Keywords | 小児内分泌学 |
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| Research Abstract |
The major features of Kenny-Caffey syndrome are proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of anterior fontanel, eye abnormalities, and transient hypocalcemia. We explored for the causative gene of this syndrome. We gathered all Japanese patients reported in the literatures, and collected 13 peripheral lymphocyte samples of all four patients and their family members, and obtained genome DNA with informed consent. We performed exome sequences of these samples, but unfortunately we could not detect the causative gene.
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