De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Centre for Human Genetics · Open Data Institute · +71 more institutions
Abstract
Abstract Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes 1 . Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome 2 . We identify an 18 base pair region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and stem III) that is severely depleted of variation in the general population, but in which we identify…
Citation impact
- FWCI
- 23.50
- Percentile
- 100%
- References
- 60
Authors
119- YCYuyang ChenCorresponding
Centre for Human Genetics, Open Data Institute, University of Oxford
- RDRuebena Dawes
Centre for Human Genetics, Open Data Institute, University of Oxford
- HCHyung Chul Kim
Centre for Human Genetics, Open Data Institute, University of Oxford
- ALAlicia Ljungdahl
University of California, San Francisco, University of Oxford
- SLSarah L. Stenton
Broad Institute, Boston Children's Hospital, Harvard University, Broad Center
Topics & keywords
- Biology
- Medicine
- Neuroscience
- Genetics