Nature Genetics publishes author correction to RNU4-2 neurodevelopmental syndrome paper

An author correction has been issued for the Nature Genetics paper identifying biallelic RNU4-2 variants as a cause of a recessive neurodevelopmental syndrome with distinct white matter changes.

Published · AI-drafted summary based on 1 public source
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Nature Genetics has published an author correction to a previously reported paper describing biallelic variants in the noncoding RNA gene RNU4-2 as the cause of a recessive neurodevelopmental syndrome characterised by distinct white matter changes on neuroimaging.

The original study was a significant finding in the rare neurodevelopmental disease field, identifying pathogenic variants in a small nuclear RNA gene — a class of gene not previously well-established as a cause of Mendelian disease. Author corrections in peer-reviewed journals may address errors in data presentation, figures, supplementary materials, or author attribution; the specific nature of this correction is not detailed in the feed entry.

Readers following this research area — particularly those in clinical genetics, rare disease research, and genetic counselling for families affected by unexplained neurodevelopmental conditions — should note the correction and consult the updated article directly via Nature Genetics. The correction does not necessarily affect the principal findings of the original work; readers should review the correction notice for detail.

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Read the original reporting — these are the public sources this summary draws from.

  1. Primary source Springer Nature · 2026-05-18
    Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

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rnu4-2 neurodevelopment rare-disease noncoding-rna author-correction white-matter
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Genetic Current is the news section of Evagene, an academic, research, and educational pedigree-modelling platform. Stories are AI-drafted summaries of items from trusted public sources, written for researchers, clinicians, educators, students, genealogists, and patients with an interest in genetics. Summaries are for educational and research purposes only and are not medical advice.

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