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A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome
http://hdl.handle.net/10069/38930
http://hdl.handle.net/10069/38930a296c76c-8be2-41df-8668-3ec2cadcdb23
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
JHG63_387.pdf (471.8 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2019-04-02 | |||||
| タイトル | ||||||
| タイトル | A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Takenouchi-Kosaki syndrome | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | CDC42 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | immunodeficiency | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | congenital hypothyroidism | |||||
| 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 |
Motokawa, Midori
× Motokawa, Midori× Watanabe, Satoshi× Nakatomi, Akiko× Kondoh, Tatsuro× Matsumoto, Tadashi× Morifuji, Kanako× Sawada, Hirotake× Nishimura, Toyoki× Nunoi, Hiroyuki× Yoshiura, Koh-ichiro× Moriuchi, Hiroyuki× Dateki, Sumito |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Takenouchi-Kosaki syndrome (TKS) is a congenital malformation syndrome characterized by severe developmental delay, macrothrombocytopenia, camptodactyly, sensorineural hearing loss, and dysmorphic facial features. Recently, a heterozygous de novo mutation (p.Tyr64Cys) in the CDC42 gene, which encodes a key small GTP binding protein of the Rho-subfamily, was identified in two unrelated patients with TKS. We herein report a third patient with TKS who had the same heterozygous CDC42 mutation. The phenotype of the patient was very similar to those of the two previously reported patients with TKS; however, she also demonstrated novel clinical manifestations, such as congenital hypothyroidism and immunological disturbance. Thus, despite the heterozygous mutation of CDC42 (p.Tyr64Cys) likely being a hot-spot mutation for TKS, its phenotype may be variable. Further studies and the accumulation of patients with CDC42 mutations are needed to clarify the phenotype in patients with TKS and the pathophysiological roles of the CDC42 mutation. | |||||
| 書誌情報 |
Journal of Human Genetics 巻 63, 号 3, p. 387-390, 発行日 2018-01-15 |
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| 出版者 | ||||||
| 出版者 | Springer Nature | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 14345161 | |||||
| EISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 1435232X | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1038/s10038-017-0396-5 | |||||
| 権利 | ||||||
| 権利情報 | c 2018, The Author(s), under exclusive licence to The Japan Society of Human Genetics. | |||||
| 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 | |||||
| 引用 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Journal of Human Genetics, 63(3), pp.387-390; 2018 | |||||
