2011 Fiscal Year Final Research Report
Study on causes and mechanisms of trigonocephaly syndromes using Next-generation sequencers.
| Project/Area Number |
21591329
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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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 |
KANAME Tadashi 琉球大学, 大学院・医学研究科, 准教授 (40264288)
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| Co-Investigator(Kenkyū-buntansha) |
NARITOMI Kenji 琉球大学, 大学院・医学研究科, 教授 (20101446)
YANAGI Kumiko 琉球大学, 大学院・医学研究科, 助教 (90294701)
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| Project Period (FY) |
2009 – 2011
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| Keywords | 遺伝子 / 奇形症候群 / ゲノム / 次世代シーケンサー / マイクロアレイ |
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| Research Abstract |
There are many syndromes with trigonocephaly. However, almost all the syndromes have not been identified their responsible genes and their mechanisms. The aim of this study was to identify abnormalities in the patients with trigonocephaly and to establish the gene-scanning system for responsible genes for trigonocephaly.
We identified a partial deletion of 9q34. 11 in a patient by array-CGH, a mutation in the ASXL1 gene in a patient with Bohring-Opitz syndrome by whole exome analysis using Next-generation sequencer, and mutations in CD96 or ASXL1 in six patients by direct sequencing analysis. We also established gene-scanning systems for CD96 and ASXL1 by qPCR-HRM method.
For the mechanisms of trigonocephaly, we found that CD96 interacts with an extra-cellular matrix protein, laminin.
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[Journal Article] Characterization of the complex 7q21. 3 rearrangement in a patient with bilateral split-foot malformation and hearing loss2009
Author(s)
Saitsu H, Kurosawa K, Kawara H, Eguchi M, Mizuguchi T, Harada N, Kaname T, Kano H, Miyake N, Toda T, Matsumoto N
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Journal Title
Am J Med Genet
Volume: 149A
Pages: 1224-1230
Peer Reviewed
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