Establishment of comprehensive gene analysis of Noonan syndrome and related disorders
Project/Area Number |
26461520
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Research Category |
Grant-in-Aid for Scientific Research (C)
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Allocation Type | Multi-year Fund |
Section | 一般 |
Research Field |
Pediatrics
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Research Institution | Tohoku University |
Principal Investigator |
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Co-Investigator(Kenkyū-buntansha) |
松原 洋一 国立研究開発法人国立成育医療研究センター, 所長室, 研究所長 (00209602)
青木 洋子 東北大学, 医学系研究科, 教授 (80332500)
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Research Collaborator |
Umeki Ikumi
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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 |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2016: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2014: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
|
Keywords | ヌーナン症候群 / コステロ症候群 / CFC症候群 / 遺伝子解析 / 次世代シークエンサー / NGS |
Outline of Final Research Achievements |
NGS enables comprehensive gene analysis of Noonan syndrome and related disorders. However, there are problems about cost and flexibility of target design. To solve these problems, we established a gene analysis system using multiplex PCR and NGS. We analyzed total 48 samples including positive controls. The results were acceptable, though minor modifications were needed.
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Report
(4 results)
Research Products
(16 results)
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[Journal Article] Human genetic variation database, a reference database of genetic variations in the Japanese population2016
Author(s)
Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, Doi K, Shimizu M, Nakabayashi K, Aoki Y, Tsurusaki Y, Morishita S, Kawaguchi T, Migita O, (中略), Matsumoto N, Matsuda F.
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Journal Title
J. Hum. Genet.
Volume: advance online publication
Pages: 547-53
DOI
NAID
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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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
Pages: 209-22
DOI
Related Report
Peer Reviewed / Int'l Joint Research / Acknowledgement Compliant
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[Journal Article] Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities.2016
Author(s)
Watanabe Y, Shido K, Niihori T, Niizuma H, Katata Y, Iizuka C, Oba D, Moriya K, Saito-Nanjo Y, Onuma M, Rikiishi T, Sasahara Y, Watanabe M, Aiba S, Saito R, Sonoda Y, Tominaga T, Aoki Y, Kure S.
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Journal Title
Am J Med Genet A.
Volume: 170
Pages: 189-194
DOI
Related Report
Peer Reviewed
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[Journal Article] Mutation in MECOM, encoding oncoprotein EVI1, cause amegakaryocytic thrombocytopenia with radioulnar synostosis.2015
Author(s)
Niihori T, Ouchi-Uchiyama M, Sasahara Y, Kaneko T, Hashii Y, Irie M, Sato A, Saito-Nanjo Y, Funayama R, Nagashima T, Inoue S, Nakayama K, Ozono K, Kure S, Matsubara Y, Imaizumi M, Aoki Y.
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Journal Title
Am. J. Hum. Genet.
Volume: 97
Pages: 848-54
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype2015
Author(s)
Moriya M, Inoue S, Miyagawa-Tomita S, Nakashima Y, Oba D, Niihori T, Hashi M, Ohnishi H, Kure S, Matsubara Y, Aoki Y.
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Journal Title
Human molecular genetics
Volume: 24
Pages: 7349-60
DOI
Related Report
Peer Reviewed / Acknowledgement Compliant
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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
Pages: 2223-2225
DOI
Related Report
Peer Reviewed
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[Journal Article] Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome2015
Author(s)
Hino-Fukuyo N, Kikuchi A, Arai-Ichinoi N, Niihori T, Sato R, Suzuki T, Kudo H, Sato Y, Nakayama T, Kakisaka Y, Kubota Y, Kobayashi T, Funayama R, Nakayama K, Uematsu M, Aoki Y, Haginoya K, Kure S.
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Journal Title
Hum Genet
Volume: 134
Pages: 649-58
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] Mutations in PIGL in a patient with Mabry syndrome2015
Author(s)
Fujiwara I, Murakami Y, Niihori T, Kanno J, Hakoda A, Sakamoto O, Okamoto N, Funayama R, Nagashima T, Nakayama K, Kinoshita T, Kure S, Matsubara Y, Aoki Y.
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Journal Title
Am J Med Genet A
Volume: in press
Pages: 777-785
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Journal Article] GNE myopathy associated with congenital thrombocytopenia: a report of two siblings2014
Author(s)
Izumi R, Niihori T, Suzuki N, Sasahara Y, Nishiyama A, Nishiyama S, Endo K, Kato M, Warita H, Konno H, Tateyama M, Nagashima T, Funayama R, Nakayama K, Kure S, Matsubara Y, Aoki Y, Aoki M.
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Journal Title
Neuromuscul Disord.
Volume: 24(12)
Pages: 1068-1072
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Presentation] Mutations in MECOM, encoding oncoprotein EVI1, cause radioulnar synostosis with amegakaryocytic thrombocytopenia2016
Author(s)
Niihori T, Ouchi-Uchiyama M, Sasahara Y, Kaneko T, Hashii Y, Irie M, Sato A, Saito-Nanjo Y, Funayama R, Nagashima T, Inoue S, Nakayama K, Ozono K, Kure S, Matsubara Y, Imaizumi M, Aoki Y
Organizer
13th ICHG
Place of Presentation
国立京都国際会館(京都市)
Year and Date
2016-04-03
Related Report
Int'l Joint Research
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