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  1. 学術雑誌論文
  2. その他
  1. 部局別インデックス
  2. 医学部

Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay

http://hdl.handle.net/20.500.12000/46926
http://hdl.handle.net/20.500.12000/46926
87542db3-999f-464e-8d48-99f1663467db
名前 / ファイル ライセンス アクション
mgg3.1342.pdf mgg3.1342.pdf
Item type デフォルトアイテムタイプ(フル)(1)
公開日 2020-10-09
タイトル
タイトル Pathogenic evaluation of synonymous COL4A5 variants in X-linked Alport syndrome using a minigene assay
言語 en
作成者 Horinouchi, Tomoko

× Horinouchi, Tomoko

en Horinouchi, Tomoko

Yamamura, Tomohiko

× Yamamura, Tomohiko

en Yamamura, Tomohiko

Minamikawa, Shogo

× Minamikawa, Shogo

en Minamikawa, Shogo

Nagano, China

× Nagano, China

en Nagano, China

Sakakibara, Nana

× Sakakibara, Nana

en Sakakibara, Nana

Nakanishi, Koichi

× Nakanishi, Koichi

en Nakanishi, Koichi

Shima, Yuko

× Shima, Yuko

en Shima, Yuko

Morisada, Naoya

× Morisada, Naoya

en Morisada, Naoya

Ishiko, Shinya

× Ishiko, Shinya

en Ishiko, Shinya

Aoto, Yuya

× Aoto, Yuya

en Aoto, Yuya

Nagase, Hiroaki

× Nagase, Hiroaki

en Nagase, Hiroaki

Takeda, Hiroki

× Takeda, Hiroki

en Takeda, Hiroki

Rossanti, Rini

× Rossanti, Rini

en Rossanti, Rini

Ishimori, Shingo

× Ishimori, Shingo

en Ishimori, Shingo

Kaito, Hiroshi

× Kaito, Hiroshi

en Kaito, Hiroshi

Matsuo, Masafumi

× Matsuo, Masafumi

en Matsuo, Masafumi

Iijima, Kazumoto

× Iijima, Kazumoto

en Iijima, Kazumoto

Nozu, Kandai

× Nozu, Kandai

en Nozu, Kandai

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
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 aberrant splicing
言語 en
主題Scheme Other
主題 mild phenotype
言語 en
主題Scheme Other
主題 splicing assay
言語 en
主題Scheme Other
主題 synonymous variant
言語 en
主題Scheme Other
主題 X-linked Alport syndrome
内容記述
内容記述タイプ Other
内容記述 Background: X-linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity of variants detected by such analyses can be difficult. Intronic variants or synonymous variants may cause inherited diseases by inducing aberrant splicing. Transcript analysis is necessary to confirm the pathogenicity of such variants, but it is sometimes difficult to extract mRNA directly from patient specimens. Methods: In this study, we conducted in vitro splicing analysis using a hybrid minigene assay and specimens from three XLAS patients with synonymous variants causing aberrant splicing, including previously reported pathogenic mutations in the same codon. The variants were c.876 A>T (p.Gly292=), c.2358 A>G (p.Pro786=), and c.3906 A>G (p.Gln1302=). Results: The results from our hybrid minigene assay were sufficient to predict splicing abnormalities; c.876 A>T cause 17-bp del and 35-bp del, c.2358 A>G cause exon 29 skipping, c.3906 A>G cause exon 42 skipping, which are very likely to cause pathogenicity. Further, patients carrying c.2358 A>G exhibited a mild phenotype that may have been associated with the presence of both normal and abnormally spliced transcripts. Conclusion: The minigene system was shown to be a sensitive assay and a useful tool for investigating the pathogenicity of synonymous variants.
内容記述タイプ Other
内容記述 論文
出版者
言語 en
出版者 Wiley Open Access
言語
言語 eng
資源タイプ
資源タイプ journal article
資源タイプ識別子 http://purl.org/coar/resource_type/c_6501
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/20.500.12000/46926
識別子タイプ HDL
関連情報
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1002/mgg3.1342
関連識別子
識別子タイプ DOI
関連識別子 https://doi.org/10.1002/mgg3.1342
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
言語 en
収録物名 Molecular Genetics and Genomic Medicine
書誌情報
巻 8, 号 8
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