| Project/Area Number |
24791103
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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 | National Research Institute for Child Health and Development |
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Principal Investigator |
IGARASHI Maki 独立行政法人国立成育医療研究センター, その他部局等, 研究員 (10623035)
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Project Status |
Completed (Fiscal Year 2013)
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| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2013: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2012: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
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| Keywords | 性分化疾患 / 次世代シークエンス / アレイCGH / 性分化疾患（DSD） / 次世代シークエンス（NGS） / 国際情報交換 / ベトナム |
|---|
| Research Abstract |
The purpose of this study was to identify genetic defects in patients with disorders of sex development (DSD). We performed next generation sequencing and array-based comparative genomic hybridization.
The results obtained from 257 DSD patients included the following findings. 1) Of 47 patients with the severe DSD, 8, 29 and 4 had causative mutations, candidate mutations and submicroscopic chromosomal deletions, respectively. 2) Of 150 patients with the hypospadias, 7 and 23 carried causative mutations and disease susceptibility polymorphisms, respectively. 3) A patient with hypogonadotropic hypogonadism was shown to have a frameshift mutation in FGF8. These data provided novel information about molecular basis of DSD.
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