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Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism
http://hdl.handle.net/10069/38585
http://hdl.handle.net/10069/38585b4936c58-91f5-4eca-ab0b-0d37e23b6bd2
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
ISYK1097_Satoh.pdf (749.9 kB)
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| Item type | 学位論文 / Thesis or Dissertation(1) | |||||
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| 公開日 | 2018-09-20 | |||||
| タイトル | ||||||
| タイトル | Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism | |||||
| 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_db06 | |||||
| 資源タイプ | doctoral thesis | |||||
| 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 | |||||
| 著者 |
佐藤, 智生
× 佐藤, 智生 |
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| 著者別名 | ||||||
| 識別子Scheme | WEKO | |||||
| 識別子 | 116168 | |||||
| 姓名 | Satoh, Chisei | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Mutations in KAT6A, encoding a member of the MYST family of histone acetyl-transferases, were recently reported in patients with a neurodevelopmental disorder (OMIM: #616268, autosomal dominant mental retardation-32). In this report, we describe three siblings with intellectual disability (ID) or global developmental delay and a KAT6A heterozygous nonsense mutation, i.e., c.3070C>T (p.R1024*, ENST00000406337; chr8:41795056G>A on hg19). This mutation was identified by whole-exome sequencing of all three siblings but not in a healthy sibling. The mutation was not detected in the peripheral blood of their parents, suggesting the existence of parental germline mosaicism. The primary symptoms of our patients included severe to profound ID or global developmental delay, including speech delay with craniofacial dysmorphism; these symptoms are consistent with symptoms previously described for patients with KAT6A mutations. Although several features are common among patients with KAT6A mutations, the features are relatively nonspecific, making it difficult to establish a clinical entity based on clinical findings alone. To the best of our knowledge, this is the first report of cases with a KAT6A mutation in an Asian population and these cases represent the first reported instances of germline mosaicism of this disease. | |||||
| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | 長崎大学学位論文 学位記番号:博(医歯薬)甲第1097号 学位授与年月日:平成30年9月20日 | |||||
| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Author: Chisei Satoh, Ryuta Maekawa, Akira Kinoshita, Hiroyuki Mishima, Michiko Doi, Mutsuko Miyazaki, Masafumi Fukuda, Haruo Takahashi, Tatsuro Kondoh and Koh-ichiro Yoshiura | |||||
| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Citation: Human Genome Variation, 4, 17045; 2017 | |||||
| 書誌情報 |
Human Genome Variation 巻 4, p. 17045, 発行日 2018-09-20 |
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| EISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 2054345X | |||||
| DOI | ||||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1038/hgv.2017.45 | |||||
| 権利 | ||||||
| 権利情報 | c The Author(s) 2017 This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| その他のタイトル | ||||||
| その他のタイトル | 生殖細胞系列モザイクによりKAT6A遺伝子にナンセンス変異をみとめた３兄弟 | |||||
| 出版者 | ||||||
| 出版者 | 日本人類遺伝学会 | |||||
| 学位名 | ||||||
| 学位名 | 博士(医学) | |||||
| 学位授与機関 | ||||||
| 学位授与機関識別子Scheme | kakenhi | |||||
| 学位授与機関識別子 | 17301 | |||||
| 学位授与機関名 | Nagasaki University (長崎大学) | |||||
| 学位授与年月日 | ||||||
| 学位授与年月日 | 2018-09-20 | |||||
| 学位授与番号 | ||||||
| 学位授与番号 | 甲医歯薬第1097号 | |||||
| 学位の種類 | ||||||
| 値 | 課程博士 | |||||
| 引用 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Nagasaki University (長崎大学), 博士(医学) (2018-09-20) | |||||
