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Research conducted by the Icahn School of Medicine at Mount Sinai, in collaboration with teams from several European countries, has identified a new genetic factor linked to neurodevelopmental disorders (NDDs). This pivotal finding may provide clarity and hope for countless families seeking answers about their loved ones’ conditions.
The findings, published on April 10 in the Nature Genetics journal, highlight that mutations occurring in a previously overlooked non-coding gene, RNU2-2, are responsible for a relatively common form of NDD. Non-coding genes, while not coding for proteins, play crucial regulatory roles in various cellular functions.
Building upon last year’s significant discovery of RNU4-2 / ReNU syndrome, the research team has established a connection to another disorder caused by mutations in the RNU2-2 gene. Although there are some overlapping characteristics between RNU4-2 / ReNU syndrome and RNU2-2 syndrome, individuals with the latter tend to experience more severe epileptic symptoms.
“The identification of RNU2-2 mutations as a contributing factor in NDDs is significant because it underscores the vital biological role that a specific group of small non-coding genes plays in these disorders,” stated Daniel Greene, PhD, a lead author and Assistant Professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai. “These mutations often occur spontaneously rather than being passed down genetically from parents to children.”
NDDs encompass a range of conditions affecting nervous system and brain development, including autism spectrum disorders, intellectual disabilities, and motor coordination issues. These disorders typically exhibit a genetic component and manifest during early childhood, leading to lifelong challenges in education, behavior, and communication. This latest study opens the door to understanding a newly recognized type of NDD.
“Through years of providing resources and support to families dealing with rare genetic disorders, we have seen how receiving a diagnosis can profoundly impact their lives by facilitating access to appropriate care and support networks,” remarks Sarah Wynn, PhD, CEO of Unique, an organization dedicated to advocating for those impacted by rare chromosome and gene disorders.
Technological advancements in genetic sequencing, notably through the whole-genome sequencing initiative that examined over 50,000 individuals by Genomics England, aided the researchers in linking mutations in RNU2-2 to this novel disorder. The team also discovered a different mutation within the same gene, which seems to occur more frequently in non-affected individuals as they age, potentially providing insights into age-associated conditions.
“We project that the occurrence of RNU2-2 disorder is roughly 20% that of RNU4-2 / ReNU syndrome, indicating that thousands of families around the world could be affected,” notes senior study author Ernest Turro, PhD, Associate Professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai.
“A definitive genetic diagnosis enables families to link up with others facing similar challenges, exchange invaluable experiences, and learn how best to manage the disorder. Furthermore, this discovery encourages further scientific inquiries into the underlying molecular mechanisms of the condition,” Dr. Turro adds.
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