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Neurodevelopmental disorders

Variants in a noncoding gene drive prevalent neurodevelopmental disorder

Nature Reviews Neuroscience volume 25, page 594 (2024)Cite this article

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Current genetic tests for neurodevelopmental disorders (NDDs) cannot account for around 60% of individuals with these conditions. Two recent studies now point to the contribution of noncoding genes to these disorders, and identify variants in the gene encoding the small nuclear RNA (snRNA) RNU4-2 in many individuals with NDDs.

Most clinical genetic testing uses exome sequencing, which excludes the 98.5% of the genome that is not protein encoding. To access these regions, Chen et al. and Greene et al. analysed whole-genome sequencing data collected from participants in the Genomics England 100,000 genomes project.

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  1. Nature Reviews Neuroscience http://www.nature.com/nrn/

    Katherine Whalley

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  1. Katherine Whalley
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Correspondence to Katherine Whalley.

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Whalley, K. Variants in a noncoding gene drive prevalent neurodevelopmental disorder. Nat. Rev. Neurosci. 25, 594 (2024). https://doi.org/10.1038/s41583-024-00850-w

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