2013 Fiscal Year Final Research Report

Genome-wide association studies for heterotaxy syndrome

Research Project

Project/Area Number	24791043
Research Category	Grant-in-Aid for Young Scientists (B)
Allocation Type	Multi-year Fund
Research Field	Pediatrics
Research Institution	The University of Tokyo
Principal Investigator	INUZUKA Ryo 東京大学, 医学部附属病院, 講師 (00597560)
Project Period (FY)	2012-04-01 – 2014-03-31
Keywords	心房内臓錯位症候群 / 網羅的遺伝子解析
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.

(4 results)