| Project/Area Number |
15K09734
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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 |
Embryonic/Neonatal medicine
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| Research Institution | National Center for Child Health and Development |
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Principal Investigator |
Matsubara Keiko 国立研究開発法人国立成育医療研究センター, 分子内分泌研究部, 上級研究員 (90542952)
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| Co-Investigator(Kenkyū-buntansha) |
和田 友香 国立研究開発法人国立成育医療研究センター, 周産期センター, 医師 (80399485)
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| Co-Investigator(Renkei-kenkyūsha) |
Shibasaki Jun 神奈川県立こども医療センター, 新生児科, 医長 (30540471)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2015: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | インプリンティング疾患 / 筋緊張低下 / 染色体微細構造異常 / インプリンティング異常症 / メチル化異常 / 染色体構造異常 |
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| Outline of Final Research Achievements |
In this study, we focused on the genetic background among hypotonic neonates and infants. We performed molecular analyses, such as pyrosequencing and aCGH for a screening of human imprinting disorders (IDs) and chromosomal rearrangement (CR) respectively. Among 70 cases showing hypotonia during their neonatal or infantile period, we identified 10 cases with IDs (14.3%, 1 with Silver-Russell syndrome; SRS, 1 with Temple syndrome; TS14, 7 with Prader-Willi syndrome; PWS and 1 with Angelman syndrome) and 9 with CR (12.9%). Our study indicated that IDs and CR should be considered as possible diagnoses for hypotonic children. Besides, this result suggested the usefulness of methylation screening targeting not only Prader-Willi syndrome but also other IDs (SRS, TS14, etc.) in hypotonic children.
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