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Rare developmental disorder caused by variants in a small RNA gene

Genetic variants in RNU4-2, a gene in a part of the genome not usually in the spotlight, have been identified as the cause of a developmental disorder in a large number of individuals who previously lacked a diagnosis.
  1. Henrike Heyne

    1. Henrike Heyne is at the Hasso Plattner Institute for Digital Engineering, University of Potsdam, 14482 Potsdam, Germany.

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For many individuals with rare disease, finding the genetic cause is deeply important for them as well as for their families, and can sometimes open up possibilities for targeted treatment. In around 60% of cases, however, a cause cannot be found1. Writing in Nature2 and Nature Medicine3, two independent teams discover that variants in a gene called RNU4-2 are among the most frequent causes of developmental disorders. Interestingly, this gene does not code for a protein but for a small RNA molecule involved in processing (splicing) other RNA molecules. Genes that do not code for proteins are less well understood than those that do, and therefore are not usually considered when searching for causes of rare genetic diseases — possibly explaining why the involvement of RNU4-2 has so far gone unnoticed.

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Nature 632, 747-748 (2024)

doi: https://doi.org/10.1038/d41586-024-02434-1

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Competing Interests

The author declares no competing interests.

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