| Item type |
デフォルトアイテムタイプ（フル）(1) |
| 公開日 |
2020-06-02 |
| タイトル |
|
|
タイトル |
Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome |
|
言語 |
en |
| 作成者 |
Yamamura, Tomohiko
Nozu, Kandai
Minamikawa, Shogo
Horinouchi, Tomoko
Sakakibara, Nana
Nagano, China
Aoto, Yuya
Ishiko, Shinya
Nakanishi, Koichi
Shima, Yuko
Nagase, Hiroaki
Rossanti, Rini
Ye, Ming J.
Nozu, Yoshimi
Ishimori, Shingo
Morisada, Naoya
Kaito, Hiroshi
Iijima, Kazumoto
|
| アクセス権 |
|
|
アクセス権 |
open access |
|
アクセス権URI |
http://purl.org/coar/access_right/c_abf2 |
| 権利情報 |
|
|
言語 |
en |
|
権利情報 |
Creative Commons Attribution 4.0 |
| 権利情報 |
|
|
言語 |
en |
|
権利情報Resource |
https://creativecommons.org/licenses/by/4.0/ |
|
権利情報 |
https://creativecommons.org/licenses/by/4.0/ |
| 主題 |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
Alport syndrome |
| 主題 |
|
|
言語 |
ja |
|
主題Scheme |
Other |
|
主題 |
next‐generation sequencing |
| 主題 |
|
|
言語 |
ja |
|
主題Scheme |
Other |
|
主題 |
podocyte‐related gene |
| 主題 |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
targeted exome sequencing |
| 内容記述 |
|
|
内容記述タイプ |
Other |
|
内容記述 |
Background: Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3‐5 genes. Recently, comprehensive genetic analysis has become the first‐ line diagnostic tool for AS. However, no reports comparing mutation identification rates between conventional sequencing and comprehensive screening have been published. Methods: In this study, 441 patients clinically suspected of having AS were divided into two groups and compared. The initial mutational analysis method involved targeted exome sequencing using next‐generation sequencing (NGS) (n = 147, NGS group) or Sanger sequencing for COL4A3/COL4A4/COL4A5 (n = 294, Sanger group). Results: In the NGS group, 126 patients (86%) were diagnosed with AS by NGS, while two had pathogenic mutations in other genes, NPHS1 and EYA1. Further, 239 patients (81%) were diagnosed with AS by initial analysis in the Sanger group. Thirteen patients who were negative for mutation detection in the Sanger group were analyzed by NGS; three were diagnosed with AS. Two had mutations in CLCN5 or LAMB2. The final variant detection rate was 90%. Discussion: Our results reveal that Sanger sequencing and targeted exome sequencing have high diagnostic ability. NGS also has the advantage of detecting other inherited kidney diseases and pathogenic mutations missed by Sanger sequencing. |
| 内容記述 |
|
|
内容記述タイプ |
Other |
|
内容記述 |
論文 |
| 出版者 |
|
|
出版者 |
Wiley |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 識別子 |
|
|
識別子 |
http://hdl.handle.net/20.500.12000/45970 |
|
識別子タイプ |
HDL |
| 関連情報 |
|
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.1002/mgg3.883 |
| 関連情報 |
|
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.1002/mgg3.883 |
| 収録物識別子 |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
2324-9269 |
| 収録物名 |
|
|
収録物名 |
Molecular Genetics & Genomic Medicine |
|
言語 |
en |
| 書誌情報 |
巻 7,
号 9,
発行日 2019-09
|
mgg3.883.pdf
