Lizzie Wall
wall-e2.bsky.social
Lizzie Wall
@wall-e2.bsky.social
Clinical geneticist
interested to see if you get a response. I didn’t.
November 7, 2025 at 6:43 PM
Reposted by Lizzie Wall
The headlines?

1) Variants on both copies of #RNU4-2 cause a recessive neurodevelopmental disorder with prominent speech delay
2) One of the hallmarks is distinct white matter changes on MRI
3) It is clinically and genetically distinct from #ReNU syndrome

www.medrxiv.org/content/10.1...
Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
Genetic variants in RNU4-2, which encodes U4, a key non-coding small nuclear RNA (snRNA) component of the major spliceosome, were recently shown to cause a prevalent neurodevelopmental disorder (NDD) ...
www.medrxiv.org
August 18, 2025 at 11:23 AM
What a huge loss for science communication and journalism. For what it is worth I will feed back to the BBC..any other suggestions?

- worldservice.letters@bbc.co.uk
- overtoyou@bbc.co.uk
- www.bbc.co.uk/contact/comm...
Send us a comment | Contact the BBC
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April 22, 2025 at 11:12 AM