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ID 115412
タイトル別表記
NGS utility for diagnosis of MCA/ID
著者
井本, 逸勢 Tokushima University|Aichi Cancer Center Research Institute|Nagoya University KAKEN研究者をさがす
伊藤, 弘道 Tokushima University|Naruto University of Education KAKEN研究者をさがす
Osumi, Keita Tokushima University
Tokaji, Narumi Tokushima University
Ono, Akemi Tokushima University
Ichihara, Yuko Tokushima University
Shono, Miki Tokushima University
キーワード
next-generation sequencing
targeted panel sequencing
multiple congenital anomalies
intellectual disability
資料タイプ
学術雑誌論文
抄録
Background : In clinical practice, a large proportion of patients with multiple congenital anomalies and/or intellectual disabilities (MCA/ID) lacks a specific diagnosis. Recently, next-generation sequencing (NGS) has become an efficient strategy for genetic diagnosis of patients with MCA/ID. Objective : To review the utility of NGS for the diagnosis of patients with MCA/ID. Method : Patients with MCA/ID were recruited between 2013 and 2017. Molecular diagnosis was performed using NGS-based targeted panel sequencing for 4,813 genes. Promising causative variants underwent confirmation by Sanger sequencing or chromosomal microarray. Results : Eighteen patients with MCA/ID were enrolled in this study. Of them, 8 cases (44%) were diagnosed by targeted panel sequencing. Most of diagnosed patients were able to receive better counseling and more appropriate medical management. Conclusion : NGS-based targeted panel sequencing seems to be an effective testing strategy for diagnosis of patients with MCA/ID.
掲載誌名
The Journal of Medical Investigation
ISSN
13496867
13431420
cat書誌ID
AA11166929
出版者
Tokushima University Faculty of Medicine
67
3-4
開始ページ
246
終了ページ
249
並び順
246
発行日
2020-08
EDB ID
出版社版DOI
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
出版社版
部局
病院
医学系