Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures
Abstract 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 WASF...
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Nature Publishing Group
2021
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oai:doaj.org-article:7b4b5f1712354bf28cefbb8ecf7d65002021-12-05T12:18:32ZRecurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures10.1038/s41439-021-00176-42054-345Xhttps://doaj.org/article/7b4b5f1712354bf28cefbb8ecf7d65002021-11-01T00:00:00Zhttps://doi.org/10.1038/s41439-021-00176-4https://doaj.org/toc/2054-345XAbstract 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.Keiko Shimojima YamamotoTomoe YanagishitaHisako YamamotoYusaku MiyamotoMiho NagataYasuki IshiharaYohei MiyashitaYoshihiro AsanoYasushi SakataToshiyuki YamamotoNature Publishing GrouparticleGeneticsQH426-470LifeQH501-531ENHuman Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021) |
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| topic |
Genetics QH426-470 Life QH501-531 |
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Genetics QH426-470 Life QH501-531 Keiko Shimojima Yamamoto Tomoe Yanagishita Hisako Yamamoto Yusaku Miyamoto Miho Nagata Yasuki Ishihara Yohei Miyashita Yoshihiro Asano Yasushi Sakata Toshiyuki Yamamoto Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures |
| description |
Abstract 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 |
article |
| author |
Keiko Shimojima Yamamoto Tomoe Yanagishita Hisako Yamamoto Yusaku Miyamoto Miho Nagata Yasuki Ishihara Yohei Miyashita Yoshihiro Asano Yasushi Sakata Toshiyuki Yamamoto |
| author_facet |
Keiko Shimojima Yamamoto Tomoe Yanagishita Hisako Yamamoto Yusaku Miyamoto Miho Nagata Yasuki Ishihara Yohei Miyashita Yoshihiro Asano Yasushi Sakata Toshiyuki Yamamoto |
| author_sort |
Keiko Shimojima Yamamoto |
| title |
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_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_sort |
recurrent de novo pathogenic variant of wasf1 in a japanese patient with neurodevelopmental disorder with absent language and variable seizures |
| publisher |
Nature Publishing Group |
| publishDate |
2021 |
| url |
https://doaj.org/article/7b4b5f1712354bf28cefbb8ecf7d6500 |
| work_keys_str_mv |
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