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. Genetic cause for rare disease identified by whole-genome sequencing.
Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser . In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.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.
Interestingly, this gene does not code for a protein but for a small RNA molecule involved in processing other RNA molecules.
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