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Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures
A recurrent de novo pathogenic variant of WASF1, NM_003931:c.1516C>T [p.Arg506*], was identified in a 6-year-old female Japanese patient with severe developmental delay, hypotonia, hyperkinetic behavior, and distinctive facial features. The initial report of five adult patients with WASF1 variant...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2021
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8629972/ https://www.ncbi.nlm.nih.gov/pubmed/34845217 http://dx.doi.org/10.1038/s41439-021-00176-4 |
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| author | Shimojima Yamamoto, Keiko Yanagishita, Tomoe Yamamoto, Hisako Miyamoto, Yusaku Nagata, Miho Ishihara, Yasuki Miyashita, Yohei Asano, Yoshihiro Sakata, Yasushi Yamamoto, Toshiyuki |
| author_facet | Shimojima Yamamoto, Keiko Yanagishita, Tomoe Yamamoto, Hisako Miyamoto, Yusaku Nagata, Miho Ishihara, Yasuki Miyashita, Yohei Asano, Yoshihiro Sakata, Yasushi Yamamoto, Toshiyuki |
| author_sort | Shimojima Yamamoto, Keiko |
| collection | PubMed |
| description | A recurrent de novo pathogenic variant of WASF1, NM_003931:c.1516C>T [p.Arg506*], was identified in a 6-year-old female Japanese patient with severe developmental delay, hypotonia, hyperkinetic behavior, and distinctive facial features. The initial report of five adult patients with WASF1 variants was the only previous report regarding variants of this gene; this is the second such report, reaffirming that rare but recurrent truncating variants of WASF1 are associated with severe neurodevelopmental disorders. |
| format | Online Article Text |
| id | pubmed-8629972 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2021 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-86299722021-12-01 Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures Shimojima Yamamoto, Keiko Yanagishita, Tomoe Yamamoto, Hisako Miyamoto, Yusaku Nagata, Miho Ishihara, Yasuki Miyashita, Yohei Asano, Yoshihiro Sakata, Yasushi Yamamoto, Toshiyuki Hum Genome Var Data Report A recurrent de novo pathogenic variant of WASF1, NM_003931:c.1516C>T [p.Arg506*], was identified in a 6-year-old female Japanese patient with severe developmental delay, hypotonia, hyperkinetic behavior, and distinctive facial features. The initial report of five adult patients with WASF1 variants was the only previous report regarding variants of this gene; this is the second such report, reaffirming that rare but recurrent truncating variants of WASF1 are associated with severe neurodevelopmental disorders. Nature Publishing Group UK 2021-11-29 /pmc/articles/PMC8629972/ /pubmed/34845217 http://dx.doi.org/10.1038/s41439-021-00176-4 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/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/ (https://creativecommons.org/licenses/by/4.0/) . |
| spellingShingle | Data Report Shimojima Yamamoto, Keiko Yanagishita, Tomoe Yamamoto, Hisako Miyamoto, Yusaku Nagata, Miho Ishihara, Yasuki Miyashita, Yohei Asano, Yoshihiro Sakata, Yasushi Yamamoto, Toshiyuki Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures |
| title | Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures |
| title_full | Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures |
| title_fullStr | Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures |
| title_full_unstemmed | Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures |
| title_short | Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures |
| title_sort | recurrent de novo pathogenic variant of wasf1 in a japanese patient with neurodevelopmental disorder with absent language and variable seizures |
| topic | Data Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8629972/ https://www.ncbi.nlm.nih.gov/pubmed/34845217 http://dx.doi.org/10.1038/s41439-021-00176-4 |
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