Exploring rare risk variations of autism spectrum disorders: Whole-exome sequencing of a multiplex family and follow-up study in a Japanese population

2015 Fiscal Year Final Research Report

• Project/Area Number: 26860917
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Psychiatric science
• Research Institution: Niigata University
• Principal Investigator: Egawa Jun 新潟大学, 医歯(薬)学総合研究科, 特任准教授 (80648527)
• Project Period (FY): 2014-04-01 – 2016-03-31
• Keywords: 自閉スペクトラム症 / 全エクソン解析 / 短縮型変異 / 多発罹患家系

Outline of Final Research Achievements

To investigate the role of rare heterozygous truncating variations, we performed whole-exome sequencing (WES) in a multiplex ASD family with four affected individuals (two siblings and two maternal cousins), and a follow-up case-control study in a Japanese population.
WES was performed in four individuals (a proband, his affected and unaffected siblings, and their putative carrier mother) from the multiplex ASD family. Rare heterozygous truncating variations prioritized in WES were genotyped in 243 patients and 667 controls. By WES of the multiplex family, we prioritized two rare heterozygous truncating variations, RPS24 Q191X and CD300LF P261fsX266. However, we did not identify these variations in patients or controls in the follow-up study. Our findings suggest that two rare heterozygous truncating variations (RPS24 Q191X and CD300LF P261fsX266) are risk candidates for ASD.

Free Research Field

児童青年期精神医学