Expansion of the genotypic and phenotypic spectrum of wasf1-related neurodevelopmental disorder

Siddharth Srivastava, Erica L. Macke, Lindsay C. Swanson, David Coulter, Eric W. Klee, Sureni V. Mullegama, Yili Xie, Brendan C. Lanpher, Emma C. Bedoukian, Cara M. Skraban, Laurent Villard, Mathieu Milh, Mary L.O. Leppert, Julie S. Cohen

Research output: Contribution to journalArticlepeer-review


In humans, de novo truncating variants in WASF1 (Wiskott–Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one case series, there is limited information on the phenotypic spectrum and genetic landscape of WASF1-related neurodevelopmental disorder (NDD). In this report, we describe detailed clinical characteristics of six individuals with WASF1-related NDD. We demonstrate a broader spectrum of neurodevelopmental impairment including more mildly affected individuals. Further, we report new variant types, including a copy number variant (CNV), resulting in the partial deletion of WASF1 in monozygotic twins, and three missense variants, two of which alter the same residue, p.W161. This report adds further evidence that de novo variants in WASF1 cause an autosomal dominant NDD.

Original languageEnglish (US)
Article number931
JournalBrain Sciences
Issue number7
StatePublished - Jul 2021


  • Autism
  • Intellectual disability
  • Neurodevelopmental disorder
  • WASF1

ASJC Scopus subject areas

  • Neuroscience(all)


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