Article

Biallelic variants in <i>RNU2-2</i> cause the most prevalent known recessive neurodevelopmental disorder

2025-08-29

Abstract excerpt

We recently showed that mutations in RNU4-2 and RNU2-2 , two genes that are transcribed into small nuclear RNA (snRNA) components of the major spliceosome, are prevalent causes of dominant neurodevelopmental disorders (NDDs). By genetic association comparing 12,776 NDD cases with 56,064 controls, we now demonstrate the existence of a recessive form of RNU2-2 syndrome that, in England, is even more common than the...

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Literature Corpus work: e13241d8-8b6f-56c0-8ec0-0ac440bfe0b6
DOI: 10.1101/2025.08.26.25334179

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