A seminal study by researchers at the Icahn School of Medicine at Mount Sinai and colleagues in the United Kingdom, Belgium, Spain, the Netherlands, and Iceland has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). This discovery brings both closure and hope to potentially thousands of families around the world who have been searching for answers for a long time.
The study was published in the April 10 issue. Online publication of natural genetics (DOI: 10.1038/s41588-025-02159-5), A previously overlooked mutation in a small, non-coding gene called . RNU2-2 Responsible for relatively common NDDs. Non-coding genes are genes that do not produce proteins but may play important roles in regulating cellular functions.
Based on groundbreaking discoveries, RNU4-2 / Last year, a research team identified a new disease caused by mutations in non-coding genes associated with ReNU syndrome. RNU2-2. RNU4-2 / ReNU syndrome and RNU2-2 Although the syndromes have similarities, RNU2-2 syndromes tend to be more severely affected by epilepsy.
our identification RNU2-2 Mutations as a cause of NDDs are of particular interest as they solidify the biological importance of a class of small non-coding genes in NDDs. These mutations tend to occur naturally rather than being inherited from the affected person’s parents. ”
Dr. Daniel Green, lead author of the study and assistant professor of genetics and genomics at the Icahn School of Medicine at Mount Sinai
NDDs are diseases that affect the development of the brain and nervous system. These include conditions such as intellectual disability, autism spectrum disorder, and movement disorders. These NDDs often have a genetic basis, manifest in early childhood, and can lead to lifelong challenges in learning, behavior, and communication. Current discoveries include newly discovered forms of NDD.
“From our many years of experience supporting patients and families with rare genetic diseases, we know how life-changing receiving a diagnosis like this can be and the first step towards putting appropriate support and care in place,” said Dr. Sarah Wynne, CEO of Unique, an organization that provides support, information and a voice for all people affected by rare chromosomal or genetic conditions.
Advances in genetic sequencing, including whole genome sequencing of more than 50,000 individuals by Genomics England, have made this development possible. This allowed researchers to identify that the new disorder was caused by a mutation in the body. RNU2-2a gene that was once thought to be inactive. The authors also RNU2-2 This tends to occur with age even in unaffected people and can affect age-related symptoms.
“In our estimation, RNU2-2 Disability is approximately 20% of disability. RNU4-2 / ReNU syndrome is one of the most common monogenic types of NDD. “This means there must be thousands of affected families around the world,” says study lead author Dr. Ernest Touro, associate professor of genetics and genomics at the Icahn School of Medicine at Mount Sinai.
“Genetic diagnosis allows families to connect with others in a similar situation, share valuable experiences, and gain a deeper understanding of how to manage their condition. This discovery also enables further research to explore the molecular mechanisms underlying this disorder,” says Dr. Tullo.
The title of the paper is “Mutations in the snRNA gene RNU2-2 cause severe neurodevelopmental disorders with marked epilepsy.”
sauce:
Mount Sinai Health System
Reference magazines:
Green, D. others. (2025). Mutations in the small nuclear RNA gene RNU2-2 cause severe neurodevelopmental disorders with prominent epilepsy. natural genetics. DOI: 10.1038/s41588-025-02159-5. https://www.nature.com/articles/s41588-025-02159-5
