Targeted capture sequence analysis and functional study of candidate genes for mental retardation and pervasive developmental disorder

2014 Fiscal Year Final Research Report

• Project/Area Number: 25860896
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Teikyo University (2014); 独立行政法人国立精神・神経医療研究センター (2013)
• Principal Investigator: WAGA Chikako 帝京大学, 理工学部, 研究員 (80462795)
• Project Period (FY): 2013-04-01 – 2015-03-31
• Keywords: 知的障害（精神遅滞） / 遺伝子検査 / ターゲットシークエンス / 遺伝子変異

Outline of Final Research Achievements

Previous twin studies have suggested that the gene mutation is a leading cause of　intellectual disability (mental retardation) and pervasive developmental disorder. However, it is difficult to identify the responsible gene for each patient by using Sanger sequencing since there are a large number of candidate genes (over 600) for these diseases. The purpose of this study is to determine the responsible gene for the patients with intellectual disability. We performed the target sequencing of the exonic regions of 681 candidate genes in the 16 patients with intellectual disability by employing Miseq next generation sequencing, and identified the responsible gene in 3 patients (18.75%). The results indicate that the method in this study is useful for identification of the responsible gene, and lead to understanding of neuropathology of intellectual disability.

Free Research Field

分子遺伝学