2013 Fiscal Year Final Research Report
Gene analysis of West syndrome using genome copy number variation
| Project/Area Number |
23791146
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Tohoku University |
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Principal Investigator |
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| Project Period (FY) |
2011 – 2012
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| Keywords | ウエスト症候群 / アレイＣＧＨ / 小奇形 / 精神遅滞 / 遺伝子 |
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| Research Abstract |
To clarify genetic background of West syndrome, genome copy number variations were studied in 51 cases of West syndrome with minor anomalies and development delay by the microarray CGH method.
The abnormalities of genome copy number were detected in three cases of those. One of those copy number abnormalities includes a gene reported in a case with epilepsy and mental retardation. By screening of all exons using high resolution melting (HRM), a gene mutation associated with epilepsy and cortical dysplasia was detected in the gene.
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