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Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism


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タイトル: Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism
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
著者: 佐藤, 智生
著者(別表記) : Satoh, Chisei
発行日: 2018年 9月20日
出版者: 日本人類遺伝学会
引用: Nagasaki University (長崎大学), 博士(医学) (2018-09-20)
抄録: 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.
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 / Author: Chisei Satoh, Ryuta Maekawa, Akira Kinoshita, Hiroyuki Mishima, Michiko Doi, Mutsuko Miyazaki, Masafumi Fukuda, Haruo Takahashi, Tatsuro Kondoh and Koh-ichiro Yoshiura / Citation: Human Genome Variation, 4, 17045; 2017
URI: http://hdl.handle.net/10069/38585
DOI: 10.1038/hgv.2017.45
権利: © 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/
資料タイプ: Thesis or Dissertation
原稿種類: ETD
出現コレクション:110 学位論文

引用URI : http://hdl.handle.net/10069/38585

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