De novo variants in <i>SIAH1,</i> encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features

Abstract

Our results lend support to <i>SIAH1</i> as a candidate Mendelian disease gene for a recognisable syndrome, further strengthening the connection between <i>SIAH1</i> and neurodevelopmental disorders. Furthermore, the results suggest that dysregulation of the Wnt/β-catenin pathway may be involved in the pathogenesis.