2015 Fiscal Year Final Research Report
Genomic analysis identifies candidate pathogenic variants in trios with West syndrome by using array CGH
| Project/Area Number |
25461536
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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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) |
2013-04-01 – 2016-03-31
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| Keywords | ウエスト症候群 / infantile spasms / アレイCGH / トリオ検体 / 次世代シーケンサー / エクソーム解析 / de novo |
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| Outline of Final Research Achievements |
West syndrome, which is narrowly defined as infantile spasms that occur in clusters and hypsarrhythmia on EEG, is the most common early-onset epileptic
encephalopathy (EOEE). The genetic etiology of most cases of West syndrome remains unexplained. DNA from 18 patients with unexplained West syndrome was subjected to microarray-based comparative genomic hybridization (array CGH), followed by trio-based whole-exome sequencing in 14 unsolved families. The array CGH revealed candidate pathogenic copy number variations in two cases, including an Xq28 duplication and a 19p13.2 deletion. Whole-exome sequencing identified candidate mutations in known epilepsy genes in five cases.There candidate de novo mutations were identified in three cases, with two mutations occurring in two new candidate genes (NR2F1 and CACNA2D1). Hemizygous candidate mutations in ALG13 and BRWD3 were identified in the other two cases.
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| Free Research Field |
小児神経
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