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ID 115412
Title Alternative
NGS utility for diagnosis of MCA/ID
Author
Imoto, Issei Tokushima University|Aichi Cancer Center Research Institute|Nagoya University KAKEN Search Researchers
Ito, Hiromichi Tokushima University|Naruto University of Education KAKEN Search Researchers
Goji, Aya Tokushima University
Osumi, Keita Tokushima University
Tokaji, Narumi Tokushima University
Ono, Akemi Tokushima University
Ichihara, Yuko Tokushima University
Shono, Miki Tokushima University
Keywords
next-generation sequencing
targeted panel sequencing
multiple congenital anomalies
intellectual disability
Content Type
Journal Article
Description
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.
Journal Title
The Journal of Medical Investigation
ISSN
13496867
13431420
NCID
AA11166929
Publisher
Tokushima University Faculty of Medicine
Volume
67
Issue
3-4
Start Page
246
End Page
249
Sort Key
246
Published Date
2020-08
EDB ID
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Publisher
departments
University Hospital
Medical Sciences