| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2024-02-21 |
| タイトル |
|
|
タイトル |
Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
言語 |
en |
|
主題 |
CBL gene |
| キーワード |
|
|
言語 |
en |
|
主題 |
mastocytosis |
| キーワード |
|
|
言語 |
en |
|
主題 |
Noonan syndrome |
| キーワード |
|
|
言語 |
en |
|
主題 |
RAS/MAPK signaling pathway |
| 資源タイプ |
|
|
資源タイプ |
journal article |
| アクセス権 |
|
|
アクセス権 |
open access |
| 著者 |
Kawaguchi,Tatsuya
Okanishi,Tohru
岡崎,哲也
Aoki,Chisako
笠城,典子
足立,香織
吉田,雄一
三宅,紀子
Matsumoto,Naomichi
前垣,義弘
|
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Clinical Genetics, Tottori University Hospital |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Clinical Genetics, Tottori University Hospital |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Clinical Genetics, Tottori University Hospital / Department of Fundamental Nursing, School of Health Science, Faculty of Medicine Tottori University |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Clinical Genetics, Tottori University Hospital / Research Initiative Center, Organization |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Dermatology, Department of Sensory and Motor Organs, Faculty of Medicine, Tottori University |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Department of Human Genetics, Research Institute, National Center for Global Health and Medicine / Department of Human Genetics, Yokohama City University Graduate School of Medicine |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Department of Human Genetics, Yokohama City University Graduate School of Medicine |
| 著者所属（英） |
|
|
言語 |
en |
|
値 |
Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University / Division of Clinical Genetics, Tottori University Hospital |
| 抄録 |
|
|
内容記述タイプ |
Other |
|
内容記述 |
Noonan syndrome is an autosomal dominant disease characterized by multi-organ disorders caused by variants of genes involved in the RAS/MAPK signaling pathway. The nine causative genes including PTPN11 and CBL have been identified. Mastocytosis is a disease characterized by mast cell proliferation in skin, bone marrow, and other organs. To date, no previous cases of Noonan syndrome with mastocytosis caused by a pathogenic CBL variant have been reported. A boy was diagnosed with Noonan syndrome at 8 months of age with facial features and minor anomaly of his body. He presented with brown nodules of 5–10 mm on his body since the age of 2 months. The patient was diagnosed with mastocytosis by a biopsy specimen from brown nodules, which showed infiltration of mast cells. Whole-exome sequencing of the parent–patient trio revealed a de novo pathogenic CBL variant. The occurrence of mastocytosis may be a cue for the analysis of the CBL gene in Noonan syndrome. The CBL gene is involved in mastocytosis and various cancers. In the case of the pathogenic variant, long-term follow-up for the risk of cancers related to the CBL variant is necessary. |
|
言語 |
en |
| 書誌情報 |
en : Yonago Acta Medica
巻 66,
号 4,
p. 463-466,
ページ数 4,
発行日 2023-11-28
|
| 出版者 |
|
|
出版者 |
Tottori University Medical Press |
|
言語 |
en |
| ISSN |
|
|
収録物識別子タイプ |
PISSN |
|
収録物識別子 |
13468049 |
| 書誌レコードID |
|
|
収録物識別子タイプ |
NCID |
|
収録物識別子 |
AA00892882 |
| 権利 |
|
|
言語 |
en |
|
権利情報 |
(C)2023 Tottori University Medical Press |
| 情報源 |
|
|
|
関連名称 |
Yonago Acta Medica. 2023, 66(4), 463-466. |
| 関連サイト |
|
|
|
識別子タイプ |
URI |
|
|
関連識別子 |
https://www.lib.tottori-u.ac.jp/yam/yam/yam66-4/66-4contents.html |
|
|
関連名称 |
https://www.lib.tottori-u.ac.jp/yam/yam/yam66-4/66-4contents.html |
| 関連サイト |
|
|
|
識別子タイプ |
DOI |
|
|
関連識別子 |
https://doi.org/10.33160/yam.2023.11.005 |
|
|
関連名称 |
https://doi.org/10.33160/yam.2023.11.005 |
| 著者版フラグ |
|
|
出版タイプ |
VoR |
yam66(4)_463.pdf
