De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Article Swipe
Yuyang Chen
,
Ruebena Dawes
,
Hyung Chul Kim
,
Alicia Ljungdahl
,
Sarah L. Stenton
,
Susan Walker
,
Jenny Lord
,
Gabrielle Lemire
,
Alexandra C Martin-Geary
,
Vijay S Ganesh
,
Jialan Ma
,
Jamie M. Ellingford
,
Erwan Delage
,
Elston N. D’Souza
,
Shan Dong
,
David R. Adams
,
Kirsten Allan
,
Madhura Bakshi
,
Erin E. Baldwin
,
Seth Berger
,
Jonathan A. Bernstein
,
Ishita Bhatnagar
,
Ed Blair
,
Natasha J. Brown
,
Lindsay C. Burrage
,
Kimberly A. Chapman
,
David Coman
,
Alison G. Compton
,
Chloe A Cunningham
,
Precilla D’Souza
,
Petr Danecek
,
Emmanuèle C. Délot
,
Kerith‐Rae Dias
,
Ellen Roy Elias
,
Frances Elmslie
,
Care-Anne Evans
,
Lisa Ewans
,
Kimberly Ezell
,
Jamie L. Fraser
,
Lyndon Gallacher
,
Casie A. Genetti
,
Anne Goriely
,
Christina Grant
,
Tobias B. Haack
,
Jenny Higgs
,
Anjali Gupta Hinch
,
Matthew E. Hurles
,
Alma Kuechler
,
Katherine Lachlan
,
Seema R. Lalani
,
François Lecoquierre
,
Elsa Leitão
,
Anna Le Fevre
,
Richard J. Leventer
,
Jan Liebelt
,
Sarah Lindsay
,
Paul J. Lockhart
,
Alan Ma
,
Ellen F. Macnamara
,
Sahar Mansour
,
Taylor Maurer
,
Rodrigo Mendez
,
Kay Metcalfe
,
Stephen B. Montgomery
,
Mariya Moosajee
,
Marie‐Cécile Nassogne
,
Serena Neumann
,
Michael O’Donoghue
,
Melanie O’Leary
,
Elizabeth E. Palmer
,
Nikhil Pattani
,
John Phillips
,
Georgia Pitsava
,
Ryan Pysar
,
Heidi L. Rehm
,
Chloe M. Reuter
,
Nicole Revençu
,
Angelika Rieß
,
Rocío Rius
,
Lance H. Rodan
,
Tony Roscioli
,
Jill A. Rosenfeld
,
Rani Sachdev
,
Charles Shaw‐Smith
,
Cas Simons
,
Sanjay M. Sisodiya
,
Penny Snell
,
Laura St Clair
,
Zornitza Stark
,
Helen Stewart
,
Tiong Yang Tan
,
Natalie B. Tan
,
Suzanna E.L. Temple
,
David R. Thorburn
,
Cynthia J. Tifft
,
Eloise Uebergang
,
Grace E. VanNoy
,
Pradeep Vasudevan
,
Éric Vilain
,
David Viskochil
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1038/s41586-024-07773-7
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1038/s41586-024-07773-7
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 heterozygous variants in 115 individuals with NDD. Most individuals (77.4%) have the same highly recurrent single base insertion (n.64_65insT). In 54 individuals in whom it could be determined, the de novo variants were all on the maternal allele. We demonstrate that RNU4-2 is highly expressed in the developing human brain, in contrast to RNU4-1 and other U4 homologues. Using RNA sequencing, we show how 5′ splice-site use is systematically disrupted in individuals with RNU4-2 variants, consistent with the known role of this region during spliceosome activation. Finally, we estimate that variants in this 18 base pair region explain 0.4% of individuals with NDD. This work underscores the importance of non-coding genes in rare disorders and will provide a diagnosis to thousands of individuals with NDD worldwide.
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- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41586-024-07773-7
- OA Status
- hybrid
- Cited By
- 79
- References
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- OpenAlex ID
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- OpenAlex ID
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- DOI
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https://doi.org/10.1038/s41586-024-07773-7Digital Object Identifier
- Title
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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndromeWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2024Year of publication
- Publication date
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2024-07-11Full publication date if available
- Authors
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Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L. Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M. Ellingford, Erwan Delage, Elston N. D’Souza, Shan Dong, David R. Adams, Kirsten Allan, Madhura Bakshi, Erin E. Baldwin, Seth Berger, Jonathan A. Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J. Brown, Lindsay C. Burrage, Kimberly A. Chapman, David Coman, Alison G. Compton, Chloe A Cunningham, Precilla D’Souza, Petr Danecek, Emmanuèle C. Délot, Kerith‐Rae Dias, Ellen Roy Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L. Fraser, Lyndon Gallacher, Casie A. Genetti, Anne Goriely, Christina Grant, Tobias B. Haack, Jenny Higgs, Anjali Gupta Hinch, Matthew E. Hurles, Alma Kuechler, Katherine Lachlan, Seema R. Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J. Leventer, Jan Liebelt, Sarah Lindsay, Paul J. Lockhart, Alan Ma, Ellen F. Macnamara, Sahar Mansour, Taylor Maurer, Rodrigo Mendez, Kay Metcalfe, Stephen B. Montgomery, Mariya Moosajee, Marie‐Cécile Nassogne, Serena Neumann, Michael O’Donoghue, Melanie O’Leary, Elizabeth E. Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L. Rehm, Chloe M. Reuter, Nicole Revençu, Angelika Rieß, Rocío Rius, Lance H. Rodan, Tony Roscioli, Jill A. Rosenfeld, Rani Sachdev, Charles Shaw‐Smith, Cas Simons, Sanjay M. Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen Stewart, Tiong Yang Tan, Natalie B. Tan, Suzanna E.L. Temple, David R. Thorburn, Cynthia J. Tifft, Eloise Uebergang, Grace E. VanNoy, Pradeep Vasudevan, Éric Vilain, David ViskochilList of authors in order
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YesWhether a free full text is available
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hybridOpen access status per OpenAlex
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https://doi.org/10.1038/s41586-024-07773-7Direct OA link when available
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Biology, Medicine, Neuroscience, GeneticsTop concepts (fields/topics) attached by OpenAlex
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79Total citation count in OpenAlex
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2025: 65, 2024: 14Per-year citation counts (last 5 years)
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60Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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