Cargando…
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis
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...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325138/ https://www.ncbi.nlm.nih.gov/pubmed/30652005 http://dx.doi.org/10.1038/s41439-018-0034-6 |
| _version_ | 1783386084244193280 |
|---|---|
| author | 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 |
| author_facet | 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 |
| author_sort | Kondo, Hiroyuki |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-6325138 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-63251382019-01-16 Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis 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 Hum Genome Var Data Report 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. Nature Publishing Group UK 2019-01-08 /pmc/articles/PMC6325138/ /pubmed/30652005 http://dx.doi.org/10.1038/s41439-018-0034-6 Text en © The Author(s) 2019 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
| spellingShingle | Data Report 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 Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis |
| title | Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis |
| title_full | Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis |
| title_fullStr | Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis |
| title_full_unstemmed | Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis |
| title_short | Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis |
| title_sort | novel mutations in the rs1 gene in japanese patients with x-linked congenital retinoschisis |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325138/ https://www.ncbi.nlm.nih.gov/pubmed/30652005 http://dx.doi.org/10.1038/s41439-018-0034-6 |
| work_keys_str_mv | AT kondohiroyuki novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT okukazuma novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT katagirisatoshi novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT hayashitakaaki novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT nakanotadashi novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT iwataakiko novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT kuniyoshikazuki novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT kusakashunji novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT hiyoshiatsushi novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT uchioeiichi novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT kondomineo novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT oishinoriko novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT kameyashuhei novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT mizotaatsushi novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT naoinobuhisa novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT uenoshinji novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT terasakihiroko novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT morimototakeshi novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT iwakimasayoshi novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT yoshitakekazutoshi novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT iejimadaisuke novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT fujinamikaoru novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT tsunodakazushige novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT shinodakei novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis AT iwatatakeshi novelmutationsinthers1geneinjapanesepatientswithxlinkedcongenitalretinoschisis |