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WVS is a rare autosomal dominant disorder resulting from mutations in the genes encoding subunits of the PRC2, including EZH2, the catalytic subunit responsible for depositing the H3K27me3 mark (Tatton-Brown et al., 2013)

Interestingly, naturally occurring mutations have been reported in AH-containing fission-inducing proteins and related to diseases such as centronuclear myopathy (amphiphysin 2), Charcot-Marie-Tooth disease (GDAP1), Parkinsons disease (-synuclein)

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Binding of the ligand to IGF-1R leads to receptor activation through autophosphorylation of IGF-1R