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2019 Fiscal Year Final Research Report

To identify risk genes for Autism Spectrum Disorder : Whole-exome sequencing in three pairs of affected siblings.

Research Project

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Project/Area Number 16K10246
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Psychiatric science
Research InstitutionNiigata University

Principal Investigator

Shibuya Masako  新潟大学, 医歯学総合研究科, 客員研究員 (70631620)

Project Period (FY) 2016-04-01 – 2020-03-31
Keywords自閉スペクトラム症 / エクソーム解析 / 多発罹患家系
Outline of Final Research Achievements

Rare inherited variations in multiplex families with Autism Spectrum Disorder (ASD) are suggested to play a role in the genetic etiology of ASD. To further investigate the role of rare inherited variations, we performed whole-exome sequencing (WES) in three pairs of affected siblings. WES identified a rare ANK2 variation, p.( Tyr3907Ser), shared by two affected siblings and their father within families.

Free Research Field

分子遺伝学

Academic Significance and Societal Importance of the Research Achievements

一般的には収集が困難である貴重なサンプルを用いたアプローチ、すなわち、 ASD罹患同胞対3家系のエクソーム解析による候補リスク遺伝子の同定により、ASDの発症に大きな効果をもつ稀なリスク遺伝子を探索する点に本研究の学術的な特色がある。本研究で得られる成果を基盤として、将来的にはASDの発症機序解明やサブグループ分類から、新たな診断・治療法の開発や療育のオーダーメイド化につながることが期待できる。

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Published: 2021-02-19  

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