Inactivating mutations in polyadenylation factor CSTF2 disrupt intronic polyadenylation patterns and are associated with intellectual disability.

Alternative polyadenylation contributes extensively to transcript diversification and is particularly prominent during neuronal differentiation; however, its contribution to monogenic neurodevelopmental disorders remains incompletely understood. CSTF2 encodes an RNA-binding subunit of the cleavage stimulation factor complex and has previously been associated with X-linked intellectual disability through a single Asp50Ala missense variant with increased RNA-binding activity. Here, we identify seven rare CSTF2 variants in ten hemizygous male probands with intellectual disability, global developm

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