5,070千円 (直接経費: 3,900千円、間接経費: 1,170千円)
2015年度: 260千円 (直接経費: 200千円、間接経費: 60千円)
2014年度: 1,300千円 (直接経費: 1,000千円、間接経費: 300千円)
2013年度: 3,510千円 (直接経費: 2,700千円、間接経費: 810千円)
Recent advances in next-generation sequencing techniques have made the large-scale analysis of human genomes possible. In contrast with the array-based analysis of large CNVs, this approach has a greater potential to reveal single genes associated with ASDs. We sequenced the exome of 20 patients with sporadic autism and their parents (60 individuals in total), reasoning that these families would be enriched for de novo mutations of severe impact. In the sporadic or simplex families with no previous history of ASD or related phenotypes, de novo mutations underlie a substantial fraction of the risk to develop ASD.
As a result, we discovered several novel/ultra-rare de novo variations, many of them are potentially deleterious, in the first ever exome sequencing study in Japanese autism subjects; further highlighting the genetic heterogeneity of the disorder. Estimation of the exact functional consequences of rare mutations, and the translation of this knowledge to support clinical decisions towards personalized pharmacological interventions is a real future challenge.