【博士論文】学術データベース

博士論文 / Three brothers with a nonsense mutation in KAT6A caused by parental germline mosaicism 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

書誌事項

タイトル

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

タイトル別名

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

著者名

佐藤智生

学位授与大学

Nagasaki University (長崎大学) (大学ID:0073) (CAT機関ID:KI000877)

取得学位

博士(医学)

学位授与番号

甲医歯薬第1097号

学位授与年月日

2018-09-20

注記・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.

開始ページ : 17045

元資料の権利情報 : © 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/

各種コード

NII論文ID(NAID)

500001081004

NII著者ID(NRID)
  • 8000001205380
DOI (出版社)

10.1038/hgv.2017.45

DOI

info:doi/10.1038/hgv.2017.45

本文言語コード

eng

データ提供元

機関リポジトリ / NDLデジタルコレクション

DOI

博士論文 / 長崎大学 / 医学

博士論文 / 長崎大学

博士論文 / 医学

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