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Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria
https://doi.org/10.18999/nagjms.80.2.267
https://doi.org/10.18999/nagjms.80.2.26755db656d-dd17-4c81-b846-b88f52dce802
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
13_Kobayashi_T.pdf (12.8 MB)
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| Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2018-05-28 | |||||
| タイトル | ||||||
| タイトル | Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria | |||||
| 言語 | en | |||||
| 著者 |
Kobayashi, Tomoko
× Kobayashi, Tomoko× Kono, Michihiro× Suganuma, Mutsumi× Akita, Hirotaka× Takai, Ayaka× Tsutsui, Kiyohiro× Inasaka, Yu× Takeichi, Takuya× Muro, Yoshinao× 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Resource | http://creativecommons.org/licenses/by-nc-nd/4.0/ | |||||
| 権利情報 | Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | dyschromatosis symmetrica hereditaria | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | DSH | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | ADAR1 | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | phenotype-genotype correlation | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | freckle-like maculey | |||||
| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | Dyschromatosis symmetrica hereditaria (DSH) is one of the genetic pigmentation disorders and shows characteristic mixture of hyper- and hypo-pigmented small macules on the extremities. Heterozygous mutations in the adenosine deaminase acting on RNA1 gene (ADAR1 ) cause DSH. In the present study, we report five cases of DSH and identify a distinct known mutation in each patient. Furthermore, we review previously described cases with the five ADAR1 mutations found in the present study. We reviewed clinical and molecular findings in the present and previously reported cases and found an identical mutation can result in various phenotypic severities, even in one family. We found novel phenotype-genotype correlations between the presence/absence of facial lesions and the ADAR1 mutation c.3286C>T. The absence of freckle- like macules in the face was found to be more commonly associated with the mutation c.3286C>T than with the other 4 ADAR1 mutations (odds ratio = 0.056 [95% CI: 0.007–0.47, p < 0.005]). We objectively evaluated the severity of skin manifestations in the extremities using our definition of severity levels for such manifestations. This is the first semi-quantitative evaluation of skin manifestations in DSH. Using our definition, we found that patients with facial lesions with or without hypopigmented macules tend to show more severe symptoms on the extremities than patients without facials lesions show. Furthermore, no significant difference in the severity of the skin lesions was observed between the upper and the lower extremities, suggesting that sun exposure does not affect significantly the pathogenesis of DSH skin lesions. | |||||
| 言語 | en | |||||
| 内容記述 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | This work was supported in part by Grants-in-Aid for Scientific Research (C) 24591646 to MK from the Ministry of Education, Culture, Sports, Science and Technology of Japan, in part by a research grant to MK from the Kao Melanin Workshop and in part by a research grant to MK from the Japanese Society for Pigment Cell Research. | |||||
| 言語 | en | |||||
| 出版者 | ||||||
| 出版者 | Nagoya University Graduate School of Medicine, School of Medicine | |||||
| 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 | departmental bulletin paper | |||||
| 出版タイプ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| ID登録 | ||||||
| ID登録 | 10.18999/nagjms.80.2.267 | |||||
| ID登録タイプ | JaLC | |||||
| 関連情報 | ||||||
| 関連タイプ | isVersionOf | |||||
| 識別子タイプ | URI | |||||
| 関連識別子 | http://www.med.nagoya-u.ac.jp/medlib/nagoya_j_med_sci/802.html | |||||
| ISSN（print） | ||||||
| 収録物識別子タイプ | PISSN | |||||
| 収録物識別子 | 0027-7622 | |||||
| ISSN（Online） | ||||||
| 収録物識別子タイプ | EISSN | |||||
| 収録物識別子 | 2186-3326 | |||||
| 書誌情報 |
en : Nagoya Journal of Medical Science 巻 80, 号 2, p. 267-277, 発行日 2018-05 |
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| 著者版フラグ | ||||||
| 値 | publisher | |||||
