| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2012: ¥2,600,000 (Direct Cost: ¥2,000,000、Indirect Cost: ¥600,000)
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| Research Abstract |
To find genes related to heterotaxy syndrome, we performed exome sequence for 6 parent-offspring trios with sporadic heterotaxy syndrome and identified 154 candidate genes for heterotaxy syndrome. These genes included 11 genes in which multiple probands have unreported non-synonymous SNVs, 4 genes that are known to relate to embryogenesis and 5 genes related to ciliary dyskinesia. We will further perform functional analysis for these genes after narrowing down the candidate genes by analysing more probands. We also found a mutation in a gene that interacts with Nodal-Lefty-Pitx2 module, which are known to play an important role in the determination of the left-right axis in the embryogenesis. We will also search for mutations in this gene among a those in the validation cohort.
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