Dataset Information

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.

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 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.

SUBMITTER: Kondo H

PROVIDER: S-EPMC6325138 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature

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Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.

Kondo Hiroyuki H Oku Kazuma K Katagiri Satoshi S Hayashi Takaaki T Nakano Tadashi T Iwata Akiko A Kuniyoshi Kazuki K Kusaka Shunji S Hiyoshi Atsushi A Uchio Eiichi E Kondo Mineo M Oishi Noriko N Kameya Shuhei S Mizota Atsushi A Naoi Nobuhisa N Ueno Shinji S Terasaki Hiroko H Morimoto Takeshi T Iwaki Masayoshi M Yoshitake Kazutoshi K Iejima Daisuke D Fujinami Kaoru K Tsunoda Kazushige K Shinoda Kei K Iwata Takeshi T

Human genome variation 20190108

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. ...[more]

PMID: 30652005

Dataset Information

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.

Publications

Novel mutations in the <i>RS1</i> gene in Japanese patients with X-linked congenital retinoschisis.

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