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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.

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