2015 Fiscal Year Final Research Report
Whole exome sequencing analysis in infants with a hypomyelinating leukodystrophy
| Project/Area Number |
25461533
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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 | 髄鞘化障害 / エクソームシークエンス / ミトコンドリア |
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| Outline of Final Research Achievements |
Hypomyelinating leukodystrophy is a heterogeneous group of diseases. We studied 29 patients with hypomyelinating leukodystrophy to uncover their genetic etiology through chromosomal analyses, targeted gene analyses, array comparative genomic hybridization (aCGH) assay and whole-exome sequencing (WES). The presumptive diagnoses were confirmed in 62.1% of the enrolled patients (18/29). The most frequent backgrounds were 18q deletion syndrome and Pelizaeus-Merzbacher disease, with an incidence of 11% (3/29) for both. The diagnostic rate of aCGH was 6.9% (2/29). Using WES, the following causative genes of hypomyelination were identified in eight individuals (27.6%, 8/29): TUBB4A, POLR3B, KCNT1, MCOLN1,AHDC1 and X. Our findings suggest heterogeneous genetic backgrounds in patients with persistent white matter lesions. These data also indicate that WES may be a rapid and useful tool for identifying the underlying genetic causes of undiagnosed leukodystrophies.
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| Free Research Field |
小児神経学
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