2013 Fiscal Year Final Research Report
Development of personalized diagnosis systems using combination of a supporting program for clinical diagnosis of genetic diseases with HRM analysis for molecular diagnosis
| Project/Area Number |
23591506
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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 | University of the Ryukyus |
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Principal Investigator |
NARITOMI Kenji 琉球大学, 医学(系)研究科(研究院), 教授 (20101446)
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| Co-Investigator(Renkei-kenkyūsha) |
KANAME Tadashi 琉球大学, 大学院医学研究科, 准教授 (40264288)
YANAGI Kumiko 琉球大学, 大学院医学研究科, 助教 (90294701)
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| Project Period (FY) |
2011 – 2013
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| Keywords | 診断用ソフトウェア / 奇形症候群 / 遺伝子 / 高精度融解曲線分析法 |
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| Research Abstract |
Database for genetic diseases and supporting program for the diagnosis (UR-DBMS, Syndrome Finder) were developed and renewed year-on-year. The database including responsible genes for the diseases was published to the web site (http://becomerich.lab.u-ryuyu.ac.jp/).
In addition to the published database, we constructed mutation-screening plates for the genes, FGD1, MLL2, CD96, ASXL1, or genes for autism spectrum disorders to substantialize the system for personal molecular diagnosis in combination with the supporting program.
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Research Products
(33 results)
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[Journal Article] Clinical correlations of mutations affecting six components of the SWI/SNF complex : detailed description of 21 patients and a review of the literature2013
Author(s)
Kosho T, Okamoto N, Ohashi H, Tsurusaki Y, Imai Y, Hibi-Ko Y, Kawame H, Homma T, Tanabe S, Kato M, Hiraki Y, Yamagata T, Yano S, Sakazume S, Ishii T, Nagai T, Ohta T, Niikawa N, Mizuno S, Kaname T, Naritomi K, Narumi Y, Wakui K, Fukushima Y, Miyatake S, Mizuguchi T, Saitsu H, Miyake N, Matsumoto N.
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Journal Title
Am J Med Genet
Volume: 161A
Pages: 1221-1237
DOI
Peer Reviewed
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[Journal Article] The history of human populations in the Japanese Archipelago inferred from genomewide SNP data with a special reference to the Ainu and the Ryukyuan populations2012
Author(s)
Jinam T, Nishida N, Hirai M, Kawamura S, OOta H, Umetsu K, Kimura R, Ohashi J, Tajima A, Yamamoto T, Tanabe H, Mano S, Suto Y, Kaname T, Naritomi K, Yanagi K, Niikawa N, Omoto K, Tokunaga K, Saitou N.
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Journal Title
J Hum Genet
Volume: 57
Pages: 787-795
DOI
Peer Reviewed
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[Journal Article] Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome2012
Author(s)
Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N.
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Journal Title
Nat Genet
Volume: 44(4)
Pages: 376-378
DOI
Peer Reviewed
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[Journal Article] Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features2012
Author(s)
Yoneda Y, Saitsu H, Touyama M, Makita Y, Miyamoto A, Hamada K, Kurotaki N, Tomita H, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ogata K, Naritomi K, Matsumoto N.
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Journal Title
J Hum Genet
Volume: 57
Pages: 207-211
DOI
Peer Reviewed
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[Journal Article] Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome2011
Author(s)
Hannibal MC, Buckingham KJ, Ng SB, Ming JE, Beck AE, McMillin MJ, Gildersleeve HI, Bigham AW, Tabor HK, Mefford HC, Cook J, Yoshiura K-i, Matsumoto T, Matsumoto N, Miyake N, Tonoki H, Naritomi K, Kaname T, Nagai T, Ohashi H, Kurosawa K, Hou J-W, Ohta T, Liang D, Sudo A, Morris CA, Banka S, Black GC, Clayton-Smith J, Nickerson DA, Zackai EH, Shaikh TH, Donnai D, Niikawa N, Shendure J, Bamshad MJ.
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Journal Title
Am J Med Genet
Volume: 155A
Pages: 1511-1516
DOI
Peer Reviewed
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[Presentation] Novel mutations of the FGD1 gene in 16 patients with Aarskog-Scott syndrome2012
Author(s)
T. Kaname, K. Yanagi, N. Okamoto, K. Kurosawa, Y. Izumikawa, Y. Fukushima, Y. Makita, M. Tsukahara, A. Altincik, S. Mizuno, K. Naritomi
Organizer
The American Society of Human Genetics, 62nd Annual Meeting
Place of Presentation
San Francisco, CA, USA
Year and Date
20121106-10
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[Presentation] Detection of a mutation in Lenz microphthalmia family by exome sequencing2011
Author(s)
T. Kaname, K. Yanagi, Y. Muramatsu, T. Tohma, H. Hanafusa, K. Morita, S. Ikematsu, Y. Itagaki, K. Kurosawa, S. Mizuno, K. Yoshiura, K. Naritomi
Organizer
The American Society of Human Genetics, 60th Annual Meeting Montreal
Place of Presentation
Quebec, Canada
Year and Date
20111011-15
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