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Title :Comparison between conventional and comprehensive sequencing approaches for genetic diagnosis of Alport syndrome
Authors :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
Issue Date :Sep-2019
Abstract :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.
URL :https://doi.org/10.1002/mgg3.883
Type Local :雑誌掲載論文
ISSN :2324-9269
Publisher :Wiley
URI :http://hdl.handle.net/20.500.12000/45970
Citation :Molecular Genetics & Genomic Medicine Vol.7 no.9
Appears in Collections:Peer-reviewed Journal Articles (Faculty of Medicine)

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