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A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8
A Japanese family with autosomal recessive cerebellar ataxia type 8 (SCAR8, MIM 610743) is described. We identified a novel SYNE1 frameshift deletion (c.6843del, p.Q2282Sfs*3). This family shared similar clinical manifestations characterized by adult-onset, relatively pure cerebellar ataxia with mil...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656760/ https://www.ncbi.nlm.nih.gov/pubmed/29081981 http://dx.doi.org/10.1038/hgv.2017.52 |
| _version_ | 1783273756491251712 |
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| author | Yoshinaga, Tsuneaki Nakamura, Katsuya Ishikawa, Masumi Yamaguchi, Tomomi Takano, Kyoko Wakui, Keiko Kosho, Tomoki Yoshida, Kunihiro Fukushima, Yoshimitsu Sekijima, Yoshiki |
| author_facet | Yoshinaga, Tsuneaki Nakamura, Katsuya Ishikawa, Masumi Yamaguchi, Tomomi Takano, Kyoko Wakui, Keiko Kosho, Tomoki Yoshida, Kunihiro Fukushima, Yoshimitsu Sekijima, Yoshiki |
| author_sort | Yoshinaga, Tsuneaki |
| collection | PubMed |
| description | A Japanese family with autosomal recessive cerebellar ataxia type 8 (SCAR8, MIM 610743) is described. We identified a novel SYNE1 frameshift deletion (c.6843del, p.Q2282Sfs*3). This family shared similar clinical manifestations characterized by adult-onset, relatively pure cerebellar ataxia with mild eye movement abnormality. Intelligence and bulbar and respiratory functions were unaffected. This study suggests the clinical utility of using panel-based exome sequencing for genetic diagnosis in hereditary ataxias in a cost-efficient manner. |
| format | Online Article Text |
| id | pubmed-5656760 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | Nature Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-56567602017-10-27 A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8 Yoshinaga, Tsuneaki Nakamura, Katsuya Ishikawa, Masumi Yamaguchi, Tomomi Takano, Kyoko Wakui, Keiko Kosho, Tomoki Yoshida, Kunihiro Fukushima, Yoshimitsu Sekijima, Yoshiki Hum Genome Var Data Report A Japanese family with autosomal recessive cerebellar ataxia type 8 (SCAR8, MIM 610743) is described. We identified a novel SYNE1 frameshift deletion (c.6843del, p.Q2282Sfs*3). This family shared similar clinical manifestations characterized by adult-onset, relatively pure cerebellar ataxia with mild eye movement abnormality. Intelligence and bulbar and respiratory functions were unaffected. This study suggests the clinical utility of using panel-based exome sequencing for genetic diagnosis in hereditary ataxias in a cost-efficient manner. Nature Publishing Group 2017-10-26 /pmc/articles/PMC5656760/ /pubmed/29081981 http://dx.doi.org/10.1038/hgv.2017.52 Text en Copyright © 2017 The Author(s) http://creativecommons.org/licenses/by-nc-sa/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/ |
| spellingShingle | Data Report Yoshinaga, Tsuneaki Nakamura, Katsuya Ishikawa, Masumi Yamaguchi, Tomomi Takano, Kyoko Wakui, Keiko Kosho, Tomoki Yoshida, Kunihiro Fukushima, Yoshimitsu Sekijima, Yoshiki A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8 |
| title | A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8 |
| title_full | A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8 |
| title_fullStr | A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8 |
| title_full_unstemmed | A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8 |
| title_short | A novel frameshift mutation of SYNE1 in a Japanese family with autosomal recessive cerebellar ataxia type 8 |
| title_sort | novel frameshift mutation of syne1 in a japanese family with autosomal recessive cerebellar ataxia type 8 |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5656760/ https://www.ncbi.nlm.nih.gov/pubmed/29081981 http://dx.doi.org/10.1038/hgv.2017.52 |
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