"ReNU Syndrome – A Newly Discovered Neurodevelopmental Disorder (2024)"

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  • ReNU syndrome (short for RNU4-2–associated neurodevelopmental disorder) is a rare genetic condition recently identified in 2024 by researchers at the University of Manchester and UCL.

  • It is caused by mutations in a small, non-coding RNA gene called RNU4-2, which plays a role in gene splicing—a fundamental cellular process.

  • This is one of the first known diseases caused by a mutation in a non-coding RNA gene, not the typical protein-coding genes.

  • It fills diagnostic gaps for many families whose children had unexplained developmental delays.

  • ReNU syndrome has been detected in dozens of families globally since its discovery.

  • The gene RNU4-2 encodes a small nuclear RNA (snRNA) involved in the spliceosome, which edits RNA transcripts before they’re translated into proteins.

  • Mutations here disrupt normal gene expression, particularly in the brain, affecting neurodevelopment.

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Helpful new information :+1:.

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Nice information

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Picked up something new

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