Article

Mutations in the U2 snRNA gene <i>RNU2-2P</i> cause a severe neurodevelopmental disorder with prominent epilepsy

2024-09-04

Abstract excerpt

The major spliceosome comprises the five snRNAs U1, U2, U4, U5 and U6. We recently showed that mutations in RNU4- 2, which encodes U4 snRNA, cause one of the most prevalent monogenic neurodevelopmental disorders. Here, we report that recurrent germline mutations in RNU2-2P , a 191bp gene encoding U2 snRNA, are responsible for a related disorder. By genetic association, we implicated recurrent de novo single nuc...

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Literature Corpus work: d3fa86fd-6f2b-5c1d-b04d-353f934e24de
DOI: 10.1101/2024.09.03.24312863

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