Ruebena Dawes

Abstract 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 that is predicted to affect tens of thousands of individuals worldwide1,2. RNU4-2 is a non-protein-coding gene that is transcribed into the U4 small nuclear RNA component of the major spliceosome3. ReNU syndrome variants disrupt spliceosome function and alter 5′ splice site selection1,4.

Keywords Adolescent, Child, Child, Preschool, Female, Humans, Infant, Male, Young Adult, Alleles, Brain, Heterozygote, Mutation, Neurodevelopmental Disorders, RNA Splice Sites, RNA, Small Nuclear, Spliceosomes, Syndrome, Rare Diseases, Gene Expression Regulation, Developmental Abstract Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1.