Article

Saturation genome editing of<i>RNU4-2</i>reveals distinct dominant and recessive neurodevelopmental disorders

2025-04-11

Abstract excerpt

<h4>ABSTRACT</h4> Recently, de novo variants in an 18 nucleotide region in the centre of RNU4-2 were shown to cause ReNU syndrome, a syndromic neurodevelopmental disorder (NDD) that is predicted to affect tens of thousands of individuals worldwide 1,2 . RNU4-2 is a non-protein-coding gene that is transcribed into the U4 small nuclear RNA (snRNA) component of the major spliceosome 3 . ReNU syndrome variants disrupt...

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Literature Corpus work: e3b51a1b-dcd4-59d8-b1b4-c1934b9d92cf
DOI: 10.1101/2025.04.08.25325442

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