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Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation
http://hdl.handle.net/2237/27154
http://hdl.handle.net/2237/2715439ee3016-7bad-4942-b328-f3382fce31f9
| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2017-12-08 | |||||
| タイトル | ||||||
| タイトル | Pigmented macules in Waardenburg syndrome type 2 due to KITLG mutation | |||||
| 言語 | en | |||||
| 著者 |
Ogawa, Yasushi
× Ogawa, Yasushi× Kono, Michihiro× Akiyama, Masashi |
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| アクセス権 | ||||||
| アクセス権 | open access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||
| 権利 | ||||||
| 言語 | en | |||||
| 権利情報 | This is the peer reviewed version of the following article: [PIGMENT CELL & MELANOMA RESEARCH. v.30, n.5, 2017, p.501-504], which has been published in final form at [http://doi.org/10.1111/pcmr.12597]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving. | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | KITLG | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | Waardenburg syndrome | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | familial progressive hyper- and hypopigmentation | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | hyperpigmentation | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | genotype-phenotype relationship | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | We report a patient with Waardenburg syndrome (WS) type 2 who had the unusual complication of large pigmented macules. Whole-exome sequencing revealed a previously unreported homozygous KITLG mutation to be the causative gene. KITLG defect is a rare cause of WS, with only one case having been reported previously. Interestingly, both the previously reported case and the present case had large pigmented macules (café-au-lait spots). Importantly, KITLG mutations are causative of another pigmentation disorder, namely familial progressive hyper- and hypopigmentation (FPHH), which may also be accompanied by pigmented macules. The KITLG mutation in the present case is adjacent to strikingly restricted hotspots of mutations causative of FPHH. Our thorough literature review revealed that large pigmented macules are a very rare symptom of WS, raising the possibility that WS caused by KITLG mutations may represent a hitherto unnoticed phenotypic subgroup. The present findings extend our knowledge of the KIT/KITLG system. | |||||
| 言語 | en | |||||
| 出版者 | ||||||
| 出版者 | Wiley | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 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 | |||||
| 出版タイプ | ||||||
| 出版タイプ | AM | |||||
| 出版タイプResource | http://purl.org/coar/version/c_ab4af688f83e57aa | |||||
| DOI | ||||||
| 関連タイプ | isVersionOf | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | https://doi.org/10.1111/pcmr.12597 | |||||
| ISSN | ||||||
| 収録物識別子タイプ | PISSN | |||||
| 収録物識別子 | 1755-1471 | |||||
| 書誌情報 |
en : PIGMENT CELL & MELANOMA RESEARCH 巻 30, 号 5, p. 501-504, 発行日 2017-09 |
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| 著者版フラグ | ||||||
| 値 | author | |||||
| URI | ||||||
| 識別子 | http://doi.org/10.1111/pcmr.12597 | |||||
| 識別子タイプ | DOI | |||||
| URI | ||||||
| 識別子 | http://hdl.handle.net/2237/27154 | |||||
| 識別子タイプ | HDL | |||||
