A groundbreaking study by researchers at the Icahn School of Medicine at Mount Sinai, in collaboration with international teams, reveals that mutations in the RNU4-2 gene, a non-coding gene, are a common cause of neurodevelopmental disorders worldwide. This insight opens new avenues for diagnosis and understanding of these conditions.
The findings will improve clinical diagnostic services for patients with neurodevelopmental disorders.Through rigorous genetic analysis, the researchers discovered that mutations in a small non-coding gene calledcause a collection of developmental symptoms that had not previously been tied to a distinct genetic disorder. Non-coding genes are parts ofthat do not produce proteins.
More than 99 percent of genes known to harbor mutations that cause neurodevelopmental disorders encode proteins. The researchers hypothesized that non-coding genes, which don’t produce proteins, could also host mutations leading to intellectual disability. Neurodevelopmental disorders, which often appear before grade school, involve developmental deficits affecting personal, social, academic, or occupational functioning.