Alternative Title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
Degree grantor/typeNagasaki University (長崎大学)
Note (General)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.
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
Nagasaki University (長崎大学), 博士(医学) (2018-09-20)
Collection (particular)国立国会図書館デジタルコレクション > デジタル化資料 > 博士論文
Date Accepted (W3CDTF)2018-10-03T17:18:55+09:00
Data Provider (Database)国立国会図書館 : 国立国会図書館デジタルコレクション