6/
Huge thanks to Nicky for guiding this work, and to the co-authors, this wouldn't be a paper without you 🥰 @nickywhiffin.bsky.social @elstondsouza.com @ruebenadawes.bsky.social @alextremophile.bsky.social and Alex Chan

5/
The big takeaway?
UTRs are not silent. They’re critical regulatory regions—and can contain pathogenic variants just like protein coding exons do.

4/
Why are UTR variants often missed?
👉 They’re rarely prioritised in clinical genomics
👉 Annotation tools are limited
👉 Functional consequences are hard to predict

3/
The review outlines how UTR variants cause disease, such as:
- Create or remove upstream AUGs (uAUGs)
- Alter splicing
- Alter polyadenylation
- Interfere with miRNA or protein binding

2/
UTRs regulate mRNA stability, translation, and localisation. A single UTR variant can derail protein production without touching protein coding sequence!

1/
Most Mendelian disease diagnostics focus on coding regions - yet 5′ and 3′ UTRs contain important, overlooked variants.

thank you!

incredibly interesting. do you know if there is more information on the genetic parents and whether their wishes were taken into account I.e. were they told they had to take the child or they were very much wanting to take it - and how much of a difference did their preferences make in this decision