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Investigation of single-nucleotide variants in MBD5 associated with autism spectrum disorders and schizophrenia phenotypes
https://doi.org/10.18999/nagjms.78.4.465
https://doi.org/10.18999/nagjms.78.4.46525aaee04-dc38-4322-9145-4915664abb6b
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
22_Ishizuka.pdf (334.4 kB)
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| Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2016-11-29 | |||||
| タイトル | ||||||
| タイトル | Investigation of single-nucleotide variants in MBD5 associated with autism spectrum disorders and schizophrenia phenotypes | |||||
| 言語 | en | |||||
| 著者 |
Ishizuka, Kanako
× Ishizuka, Kanako× Kimura, Hiroki× Yoshimi, Akira× Banno, Masahiro× Kushima, Itaru× Uno, Yota× Okada, Takashi× Mori, Daisuke× Aleksic, Branko× Ozaki, Norio |
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| 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 | ||||||
| 言語 | en | |||||
| 権利情報Resource | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |||||
| 権利情報 | Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | neurodevelopmental disorders | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | rare variants | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | next-generation sequencing technology | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | genotype-phenotype correlations | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | MBD5 (Methyl-CpG-binding domain 5) is a critical gene for normal development. While deletion or duplication of MBD5 may contribute to a genetic predisposition to autism spectrum disorders (ASD), intellectual disability, or epilepsy, the impact of rare MBD5 single nucleotide variants (SNVs) on neurodevelopmental features, particularly features with late onset, has not been fully explored. In this study, we conducted exon-targeted resequencing of MBD5 with next-generation sequencing technology in 562 Japanese patients (192 with idiopathic ASD and 370 with schizophrenia (SCZ)) and detected 16 MBD5 SNVs with allele frequencies of ≤1%. We then performed phenotype analyses with 12 novel variants of these 16 SNVs. SCZ patients with these variants exhibited mainly within normal development ranges until the first psychosis and ASD patients with SNVs did not precisely overlap with the core characteristics described in previous literature as being associated with MBD5 SNVs. Our results suggested that MBD5 variants might contribute to a broad spectrum of neurodevelopmental pathophysiology. Further research and assessment of clinical diagnostic screening are necessary for understanding the burden of rare MBD5 SNVs for these neurodevelopmental disorders. | |||||
| 言語 | en | |||||
| 出版者 | ||||||
| 出版者 | Nagoya University Graduate School of Medicine, School of Medicine | |||||
| 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 | departmental bulletin paper | |||||
| 出版タイプ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| ID登録 | ||||||
| ID登録 | 10.18999/nagjms.78.4.465 | |||||
| ID登録タイプ | JaLC | |||||
| 関連情報 | ||||||
| 関連タイプ | isVersionOf | |||||
| 識別子タイプ | URI | |||||
| 関連識別子 | http://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/784.html | |||||
| ISSN（print） | ||||||
| 収録物識別子タイプ | PISSN | |||||
| 収録物識別子 | 0027-7622 | |||||
| ISSN（Online） | ||||||
| 収録物識別子タイプ | EISSN | |||||
| 収録物識別子 | 2186-3326 | |||||
| 書誌情報 |
en : Nagoya Journal of Medical Science 巻 78, 号 4, p. 465-474, 発行日 2016-11 |
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| 著者版フラグ | ||||||
| 値 | publisher | |||||
| URI | ||||||
| 識別子 | http://hdl.handle.net/2237/25127 | |||||
| 識別子タイプ | HDL | |||||
