| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2021-12-01 |
| タイトル |
|
|
タイトル |
TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: identification of two aberrant transcripts |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
主題 |
TSC1 |
| キーワード |
|
|
主題 |
tuberous sclerosis complex |
| キーワード |
|
|
主題 |
cardiac rhabdomyoma |
| キーワード |
|
|
主題 |
germline mosaicism |
| キーワード |
|
|
主題 |
intragenic deletion |
| キーワード |
|
|
主題 |
aberrant transcript |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| 著者 |
Uchiyama, Hiroki
Masunaga, Yohei
Ishikawa, Takamichi
Fukuoka, Tetsuya
Fukami, Maki
Saitsu, Hirotomo
Ogata, Tsutomu
|
| 書誌情報 |
European Journal of Medical Genetics
巻 63,
号 11,
p. 104060,
発行日 2020-11
|
| 出版者 |
|
|
出版者 |
Elsevier |
| 権利 |
|
|
権利情報 |
Copyright 2020. This manuscript version is made available under the CC-BY-NC-ND 4.0 license https://creativecommons.org/licenses/by-nc-nd/4.0/. |
| 権利 |
|
|
権利情報 |
"""This is the accepted manuscript version. The formal published version is available at """"https://doi.org/10.1016/j.ejmg.2020.104060"""".""" |
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
"""Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder characterized by non-cancerous tumors in multiple organs including the brain, kidney, lung, heart, and skin. We encountered a Japanese family consisting of two siblings (a four-year-old boy and a one-year-old girl) with multiple cardiac rhabdomyomas conveying a high risk of TSC and apparently unaffected sibling (a two-year-old girl) and parents. Whole exome sequencing and application of Integrative Genomic Viewer revealed an identical intragenic TSC1 deletion with the breakpoints on intron 15 and exon 19 in the affected siblings, but not in the apparently unaffected sibling and parents. Subsequently, PCR-based analyses were performed using primers flanking the deletion, showing that the deletion was also present in the father and that the deletion occurred between chr9:135,777,038 (bp) and chr9:135,780,540 (bp) in association with a one bp overlap. Furthermore, RT-PCR analyses were carried out using lymphoblastoid cell lines, revealing a major in-frame insertion/deletion transcript produced by aberrant splicing using a cryptic """"ag"""" splice acceptor motif at intron 15 (r.1998_2438delinsTTCATTAGGTGG) and a minor frameshift transcript generated by aberrant splicing between exon 15 and exon 20 (r.1998_2502del, p.Lys666Asnfs*15) in the affected siblings. These findings imply that the intragenic deletion producing two aberrant transcripts was generated as a somatic pathogenic variant involving the germline in the father and was transmitted to the affected siblings.""" |
| ISSN |
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|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
1769-7212 |
| EISSN |
|
|
収録物識別子タイプ |
ISSN |
|
収録物識別子 |
1878-0849 |
| PubMed番号 |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
PMID |
|
|
関連識別子 |
32889144 |
| 出版社DOI |
|
|
関連タイプ |
isVersionOf |
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
10.1016/j.ejmg.2020.104060 |
| 著者版フラグ |
|
|
出版タイプ |
AM |
|
出版タイプResource |
http://purl.org/coar/version/c_ab4af688f83e57aa |
EJMG-63-104060.pdf (584.5 kB)
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