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  1. C100 医学部/医学系研究科
  2. C100b 紀要
  3. Nagoya journal of medical science
  4. 78(4)

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.78.4.465
25aaee04-dc38-4322-9145-4915664abb6b
名前 / ファイル ライセンス アクション
22_Ishizuka.pdf 22_Ishizuka.pdf (334.4 kB)
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
著者 Ishizuka, Kanako

× Ishizuka, Kanako

WEKO 67667

Ishizuka, Kanako

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Kimura, Hiroki

× Kimura, Hiroki

WEKO 67668

Kimura, Hiroki

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Yoshimi, Akira

× Yoshimi, Akira

WEKO 67669

Yoshimi, Akira

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Banno, Masahiro

× Banno, Masahiro

WEKO 67670

Banno, Masahiro

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Kushima, Itaru

× Kushima, Itaru

WEKO 67671

Kushima, Itaru

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Uno, Yota

× Uno, Yota

WEKO 67672

Uno, Yota

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Okada, Takashi

× Okada, Takashi

WEKO 67673

Okada, Takashi

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Mori, Daisuke

× Mori, Daisuke

WEKO 67674

Mori, Daisuke

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Aleksic, Branko

× Aleksic, Branko

WEKO 67675

Aleksic, Branko

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Ozaki, Norio

× Ozaki, Norio

WEKO 67676

Ozaki, Norio

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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 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.
内容記述タイプ Abstract
出版者
出版者 Nagoya University Graduate School of Medicine, School of Medicine
言語
言語 eng
資源タイプ
資源 http://purl.org/coar/resource_type/c_6501
タイプ departmental bulletin paper
ID登録
ID登録 10.18999/nagjms.78.4.465
ID登録タイプ JaLC
ISSN(print)
収録物識別子タイプ ISSN
収録物識別子 0027-7622
書誌情報 Nagoya Journal of Medical Science

巻 78, 号 4, p. 465-474, 発行日 2016-11
著者版フラグ
値 publisher
URI
識別子 http://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/784.html
識別子タイプ URI
URI
識別子 http://hdl.handle.net/2237/25127
識別子タイプ HDL
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