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.

Details

Title
Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures
Author
Shimojima Yamamoto Keiko 1 ; Yanagishita Tomoe 2 ; Yamamoto Hisako 3 ; Miyamoto Yusaku 3 ; Nagata Miho 4 ; Ishihara Yasuki 4   VIAFID ORCID Logo  ; Miyashita Yohei 5 ; Asano Yoshihiro 4 ; Sakata Yasushi 4 ; Yamamoto Toshiyuki 6   VIAFID ORCID Logo 

1  Tokyo Women’s Medical University, Department of Transfusion Medicine and Cell Processing, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587); Tokyo Women’s Medical University Institute of Integrated Medical Sciences, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587) 
2  Tokyo Women’s Medical University, Department of Pediatrics, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587) 
3  St. Marianna University School of Medicine, Department of Pediatrics, Kawasaki, Japan (GRID:grid.412764.2) (ISNI:0000 0004 0372 3116) 
4  Osaka University Graduate School of Medicine, Department of Cardiovascular Medicine, Suita, Japan (GRID:grid.136593.b) (ISNI:0000 0004 0373 3971) 
5  Osaka University Graduate School of Medicine, Department of Cardiovascular Medicine, Suita, Japan (GRID:grid.136593.b) (ISNI:0000 0004 0373 3971); Osaka University Graduate School of Medicine, Department of Legal Medicine, Suita, Japan (GRID:grid.136593.b) (ISNI:0000 0004 0373 3971) 
6  Tokyo Women’s Medical University Institute of Integrated Medical Sciences, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587); Tokyo Women’s Medical University, Institute of Medical Genetics, Tokyo, Japan (GRID:grid.410818.4) (ISNI:0000 0001 0720 6587) 
Publication year
2021
Publication date
2021
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-021-00176-4
ProQuest document ID
2604246931
Copyright
© The Author(s) 2021. This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.