@caprin1-foundation.bsky.social 🧬

Maybe not...but I would be happy to have a chat with you regarding this! Reach me out if possible (your profile doesn't allow private messages) 🙃

P.S.: yes, I know it's not a full book...but my mom will be happy in any case 😄 🥰

#science #CAPRIN1 #RareDisease #NeurodevelopmentalDisorder

chapter about the role of CAPRIN1 gene in neurological conditions:

Handbook of the Biology and Pathology of Mental Disorders
Chapter: Neurogenetic Disorders and CAPRIN1

Curious to read it? Let's have a look here: lnkd.in/dcztYgNX

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Additionally, once more, the study of the methylation profile ("episignature") was fundamental for the classification of the variant. Overall, here we suggested that variants impacting exon 20 may be associated to a distinct form of Rubinstein–Taybi syndrome (RSTS).
Have a look: lnkd.in/dimVaVXi

Here, we show how a EP300 variant previously defined as of uncertain significance was actually pathogenic for our patient, causing three-dimensional alteration and skipping of exon 20.

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