| Project/Area Number |
15K21051
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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
Embryonic/Neonatal medicine
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| Research Institution | Hamamatsu University School of Medicine |
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Principal Investigator |
Kato Fumiko 浜松医科大学, 医学部, 特任研究員 (10462798)
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| Research Collaborator |
OGATA Tsutomu 浜松医科大学, 医学部, 教授 (40169173)
FUKAMI Maki 国立成育医療研究センター研究所, 分子内分泌研究部, 部長 (40265872)
KAGAMI Masayo 国立成育医療研究センター研究所, 分子内分泌研究部, 室長 (70399484)
SAWAKI Hamako 浜松医科大学, 医学部, 秘書
TAKEDA Yuriko 浜松医科大学, 医学部, 秘書
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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 |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2016: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2015: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | シルバーラッセル症候群(SRS) / 胎盤低形成 / 成長障害 / インプリンティング疾患 / エピ変異 / 第11番染色体 / ICR1(H19DMR) / ICR2(KvDMR) / シルバーラッセル症候群（SRS） / ICR1(IGF2-H19DMR) / ICR2(CDKN1C-KvDMR) / シルバーラッセル症候群 / IMAGe症候群 / ICR1 / ICR2 / 遺伝学 |
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| Outline of Final Research Achievements |
Silver-Russell syndrome (SRS) is a congenital developmental disorder characterized by pre- and postnatal growth failure, relative macrocephaly, triangular face, hemihypotrophy, and fifth finger clinodactly. SRS have a two major pathogenic factors. Previous studies have shown that epimutation(hypomethylation) of the paternally derived differentially methylated region(DMR) in the upstem of imprinting control region 1 (ICR1) located on the chr.11p15.5 and maternal uniparental disomy chr.7(upd(7)mat) account for around 45% and 5-10% of SRS patients, respectively. We performed methylation analysis for the of the 11p15 loci by pyrosequencing. As a result the SRS patients hypomethylations of ICR1 and was able to the definitive diagnosis. It is a study intended to elucidation of the disease establishment mechanism, the application to a clinical evaluation, improvement of the genetic counseling from the analysis of the SRS patient.
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