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Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan
http://hdl.handle.net/10069/00041188
http://hdl.handle.net/10069/000411885da16581-07c4-4656-90f2-81d09a63caa8
名前 / ファイル | ライセンス | アクション |
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Genes12_1817.pdf (38.7 MB)
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2022-01-28 | |||||
タイトル | ||||||
タイトル | Genetic and Phenotypic Landscape of PRPH2-Associated Retinal Dystrophy in Japan | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | retinitis pigmentosa | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | cone-rod dystrophy | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | macular dystrophy | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | peripherin 2 (PRPH2) | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | retinal degeneration slow (RDS) | |||||
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 |
Oishi, Akio
× Oishi, Akio× Fujinami, Kaoru× Mawatari, Go× Naoi, Nobuhisa× Ikeda, Yasuhiro× Ueno, Shinji× Kuniyoshi, Kazuki× Hayashi, Takaaki× Kondo, Hiroyuki× Mizota, Atsushi× Shinoda, Kei× Kusuhara, Sentaro× Nakamura, Makoto× Iwata, Takeshi× Tsujikawa, Akitaka× Tsunoda, Kazushige |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Peripherin-2 (PRPH2) is one of the causative genes of inherited retinal dystrophy. While the gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the present study, we report 40 Japanese patients from 30 families with PRPH2-associated retinal dystrophy. We identified 17 distinct pathogenic or likely pathogenic variants using next-generation sequencing. Variants p.R142W and p.V200E were relatively common in the cohort. The age of onset was generally in the 40’s; however, some patients had earlier onset (age: 5 years). Visual acuity of the patients ranged from hand motion to 1.5 (Snellen equivalent 20/13). The patients showed variable phenotypes such as retinitis pigmentosa, cone-rod dystrophy, and macular dystrophy. Additionally, intrafamilial phenotypic variability was observed. Choroidal neovascularization was observed in three eyes of two patients with retinitis pigmentosa. The results demonstrate the genotypic and phenotypic variations of the disease in the Asian cohort. | |||||
書誌情報 |
Genes 巻 12, 号 11, p. 1817, 発行日 2021-11-18 |
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出版者 | ||||||
出版者 | MDPI | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 2073-4425 | |||||
DOI | ||||||
関連タイプ | isIdenticalTo | |||||
識別子タイプ | DOI | |||||
関連識別子 | 10.3390/genes12111817 | |||||
権利 | ||||||
権利情報 | © 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Genes, 12(11), art. no. 1817; 2021 |