New Genetic Cause of Neurodevelopmental Disorders Identified
Researchers identify RNU2-2 mutations as a new cause of neurodevelopmental disorders, providing insight into epilepsy.
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A new study, led by researchers at the Icahn School of Medicine at Mount Sinai and involving international collaborators from the United Kingdom, Belgium, Spain, the Netherlands and Iceland, has identified a new genetic cause of neurodevelopmental disorders (NDDs). The findings, published on April 10 in Nature Genetics, highlight the role of mutations in a previously overlooked non-coding gene, RNU2-2, in the development of certain NDDs. This discovery offers potential answers for numerous families worldwide who have struggled to find explanations for their loved ones' conditions.
Neurodevelopmental disorders (NDDs)
Conditions that affect brain development and functioning, leading to difficulties in areas such as learning, behavior and communication.
Non-coding genes
Genes that do not produce proteins but may regulate the activity of other genes or cellular processes. These genes play an essential role in controlling various biological functions.
RNU2-2 gene
A non-coding gene that has now been identified as a cause of certain neurodevelopmental disorders.
Mutations in RNU2-2 linked to neurodevelopmental disorders
RNU2-2 is a small non-coding gene that does not produce proteins but plays an essential role in regulating various cellular functions. The study found that mutations in RNU2-2 lead to a distinct neurodevelopmental disorder, a breakthrough that builds upon the team’s earlier identification of mutations in another non-coding gene, RNU4-2, responsible for ReNU syndrome. Although both disorders share certain features, patients with RNU2-2-related conditions tend to experience more severe epilepsy.
These findings are particularly notable because they underscore the biological importance of small non-coding genes, which were previously thought to be inactive. The mutations in RNU2-2 tend to arise spontaneously, meaning they are not typically inherited from parents but occur by chance.
Implications for diagnosis and research
The identification of RNU2-2 as a cause of NDDs is significant for both the scientific community and affected families. As NDDs often have a genetic origin, they can lead to lifelong challenges in learning, behavior and communication. This discovery not only provides closure to many families who have long sought answers but also opens the door for further research into the molecular mechanisms underlying these disorders.
Dr. Daniel Greene, the study's first author and assistant professor of genetics and genomic sciences at the Icahn School of Medicine at Mount Sinai, explains that understanding RNU2-2 mutations paves the way for future studies that could reveal how these mutations disrupt cellular processes and lead to epilepsy and other symptoms commonly seen in NDDs.
Advances in genetic sequencing have also played a role in this discovery. For instance, the use of whole-genome sequencing across more than 50,000 individuals by Genomics England allowed researchers to identify RNU2-2 mutations. These efforts have expanded our understanding of genetic disorders that may have previously been misdiagnosed or overlooked.
Broader impact of the findings
The prevalence of RNU2-2-related NDDs is estimated to be around 20% of that of RNU4-2-related disorders, suggesting that thousands of families worldwide could be affected by these mutations. The discovery of RNU2-2 mutations is therefore an important step toward offering genetic diagnoses to affected individuals, allowing families to connect with one another and explore potential treatments. With a genetic diagnosis, families can share experiences and gain insight into managing the condition.
Senior author Dr. Ernest Turro, Associate Professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai, emphasized that this finding also opens the door for further studies. Research into the molecular processes involved in RNU2-2-related NDDs could reveal more about how non-coding genes contribute to the development of neurodevelopmental conditions.
Reference: Greene D, De Wispelaere K, Lees J, et al. Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy. Nature Genetics. 2025. doi: 10.1038/s41588-025-02159-5
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