Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.,Human Genome Variation

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Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.
Human Genome Variation Pub Date : 2019-01-08 , DOI: 10.1038/s41439-018-0034-6
Hiroyuki Kondo ₁ , Kazuma Oku ₁ , Satoshi Katagiri ₂ , Takaaki Hayashi ₂ , Tadashi Nakano ₂ , Akiko Iwata ₃ , Kazuki Kuniyoshi ₃ , Shunji Kusaka ₃ , Atsushi Hiyoshi ₄ , Eiichi Uchio ₄ , Mineo Kondo ₅ , Noriko Oishi ₆ , Shuhei Kameya ₆ , Atsushi Mizota ₇ , Nobuhisa Naoi ₈ , Shinji Ueno ₉ , Hiroko Terasaki ₉ , Takeshi Morimoto ₁₀ , Masayoshi Iwaki ₁₁ , Kazutoshi Yoshitake ₁₂ , Daisuke Iejima ₁₂ , Kaoru Fujinami ₁₃ , Kazushige Tsunoda ₁₃ , Kei Shinoda ₁₄ , Takeshi Iwata ₁₂

Affiliation

1Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan.
2Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
3Department of Ophthalmology, Kindai University Faculty of Medicine, Osakasayama, Japan.
4Department of Ophthalmology, Fukuoka University, Fukuoka, Japan.
5Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan.
6Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Chiba, Japan.
7Department of Ophthalmology, Teikyo University, Tokyo, Japan.
8Department of Ophthalmology, Miyazaki University, Miyazaki, Japan.
Department of Ophthalmology, Nogoya University Graduate School of Medicine, Nagoya, Japan.
10Department of Applied Visual Science, Osaka University Graduate School of Medicine, Osaka, Japan.
11Department of Ophthalmology, Aichi Medical University, Nagakute, Japan.
12Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Tokyo Medical Center, Tokyo, Japan.
13Division of Vision Research, National Institute of Sensory Organs, National Tokyo Medical Center, Tokyo, Japan.
14Department of Ophthalmology, Saitama Medical University, Moroyama, Japan.

X-linked congenital retinoschisis (XLRS) is an inherited retinal disorder characterized by reduced central vision and schisis of the macula and peripheral retina. XLRS is caused by mutations in the RS1 gene. We have identified 37 different mutations in the RS1 gene, including 12 novel mutations, in 67 Japanese patients from 56 XLRS families. We present clinical features of these patients in relation to the associated mutations.

中文翻译：

X连锁性先天性视网膜骨分裂症日本患者的RS1基因中的新突变。

X连锁先天性视网膜分裂症（XLRS）是一种遗传性视网膜疾病，其特征是中央视力下降，黄斑和周围视网膜的分裂症。XLRS是由RS1基因的突变引起的。我们已经从56个XLRS家庭的67名日本患者中鉴定出RS1基因的37个不同突变，包括12个新突变。我们介绍了与相关突变有关的这些患者的临床特征。

更新日期：2019-11-18

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