日本X连锁先天性视网膜劈裂症患者该基因中的新突变。
Novel mutations in the gene in Japanese patients with X-linked congenital retinoschisis.
作者信息
Kondo Hiroyuki, Oku Kazuma, Katagiri Satoshi, Hayashi Takaaki, Nakano Tadashi, Iwata Akiko, Kuniyoshi Kazuki, Kusaka Shunji, Hiyoshi Atsushi, Uchio Eiichi, Kondo Mineo, Oishi Noriko, Kameya Shuhei, Mizota Atsushi, Naoi Nobuhisa, Ueno Shinji, Terasaki Hiroko, Morimoto Takeshi, Iwaki Masayoshi, Yoshitake Kazutoshi, Iejima Daisuke, Fujinami Kaoru, Tsunoda Kazushige, Shinoda Kei, Iwata Takeshi
机构信息
1Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan.
2Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
出版信息
Hum Genome Var. 2019 Jan 8;6:3. doi: 10.1038/s41439-018-0034-6. eCollection 2019.
Abstract
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 gene. We have identified 37 different mutations in the 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.
摘要
X连锁先天性视网膜劈裂症（XLRS）是一种遗传性视网膜疾病，其特征为中心视力下降以及黄斑和周边视网膜劈裂。XLRS由该基因的突变引起。我们在来自56个XLRS家族的67名日本患者中，在该基因中鉴定出37种不同的突变，包括12种新突变。我们呈现了这些患者与相关突变有关的临床特征。
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