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. 2024 Nov;40(11):914-916.
doi: 10.1016/j.tig.2024.09.005. Epub 2024 Oct 1.

ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder

Vanessa F Burns  1 , Elizabeth J Radford  2
Affiliations

ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder

Vanessa F Burns et al. Trends Genet. 2024 Nov.

Abstract

Two recent papers have identified genetic variants in the noncoding gene RNU4-2 to cause a frequent neurodevelopmental disorder. This work will have a substantial impact on the rare disease community, leading to thousands of diagnoses worldwide. These studies also highlight the untapped diagnostic potential of noncoding regions.

Keywords: RNU4-2 syndrome; ReNU syndrome; neurodevelopmental disorder; noncoding; rare disease; small nuclear RNA.

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Conflict of interest statement

Declaration of interests The authors have no interests to declare.

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