Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures

Keiko Shimojima Yamamoto; Tomoe Yanagishita; Hisako Yamamoto; Yusaku Miyamoto; Miho Nagata; Yasuki Ishihara; Yohei Miyashita; Yoshihiro Asano; Yasushi Sakata; Toshiyuki Yamamoto

doi:10.1038/s41439-021-00176-4

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures

Hum Genome Var. 2021 Nov 29;8(1):43. doi: 10.1038/s41439-021-00176-4.

Authors

Keiko Shimojima Yamamoto^{1

2}, Tomoe Yanagishita³, Hisako Yamamoto⁴, Yusaku Miyamoto⁴, Miho Nagata⁵, Yasuki Ishihara⁵, Yohei Miyashita^{5

6}, Yoshihiro Asano⁵, Yasushi Sakata⁵, Toshiyuki Yamamoto^{7

8}

Affiliations

¹ Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
² Tokyo Women's Medical University Institute of Integrated Medical Sciences, Tokyo, 162-8666, Japan.
³ Department of Pediatrics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan.
⁴ Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, 216-8511, Japan.
⁵ Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, 565-0871, Japan.
⁶ Department of Legal Medicine, Osaka University Graduate School of Medicine, Suita, 565-0871, Japan.
⁷ Tokyo Women's Medical University Institute of Integrated Medical Sciences, Tokyo, 162-8666, Japan. yamamoto.toshiyuki@twmu.ac.jp.
⁸ Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, 162-8666, Japan. yamamoto.toshiyuki@twmu.ac.jp.

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.