Genetic and genomic analysis on the patients with multiple congenital anomalies
| Project/Area Number |
26461538
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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 | Kanagawa Children's Medical Center (Clinical Research Institute) |
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Principal Investigator |
Kurosawa Kenji 地方独立行政法人神奈川県立病院機構神奈川県立こども医療センター(臨床研究所), 臨床研究所, 部門長 (20277031)
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| Research Collaborator |
NARUTO Takuya 徳島大学, 大学院医歯薬学研究部人類遺伝学, 助教 (60438124)
TSURUSAKI Yoshinori 地方独立行政法人神奈川県立病院機構, 神奈川県立こども医療センター・臨床研究所, 主任研究員 (70392040)
ENOMOTO Yumi 地方独立行政法人神奈川県立病院機構, 神奈川県立こども医療センター・臨床研究所, 研究員 (20506290)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2016: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2015: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2014: ¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
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| Keywords | 多発奇形 / 精神遅滞 / 次世代シーケンス / エクソーム解析 / マイクロアレイ / ゲノム支援 / copy number variant / エクソーム / 次世代シーケンサー |
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| Outline of Final Research Achievements |
Uncovering the molecular mechanism for birth defects is critical to understand the biological mechanism of human development. To elucidate the causative gene responsible for multiple congenital anomalies of unknown origin, we performed whole exome sequence on the patients with the disorders. This work was supported by MEXT KAKENHI (No.221S0002). 31 patients were enrolled after first screening with standard karyotyping and cytogenetic microarray. Of 31 patients, the causative genomic variants for the disorders could be identified in 9 families (30%). Further analysis will be required to identify the molecular mechanism for these congenital anomalies.
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Report
(4 results)
Research Products
(31 results)
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[Journal Article] Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.2016
Author(s)
Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y.
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Journal Title
Hum Genet.
Volume: 135
Issue: 2
Pages: 209-222
DOI
Related Report
Peer Reviewed / Int'l Joint Research
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[Journal Article] A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.2015
Author(s)
Kuroda Y, Ohashi I, Enomoto Y, Naruto T, Baba N, Tanaka Y, Aida N, Okamoto N, Niihori T, Aoki Y, Kurosawa K.
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Journal Title
Am J Med Genet A.
Volume: 167A
Issue: 9
Pages: 2223-2225
DOI
Related Report
Peer Reviewed
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[Presentation] Early development of rare tumors in individuals with congenital malformation syndrome.2016
Author(s)
Minatogawa M, Iwasaki F, Fukuda K, Hatano C, Yokoi T, Enomoto Y, Ida K, Tsurusaki Y, Harada N, Saitou T, Nagai J, Goto H, Kurosawa K
Organizer
The 13th International Congress of Human Genetics
Place of Presentation
京都国際会議場（京都府京都市）
Year and Date
2016-04-03
Related Report
Int'l Joint Research
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