"New Genetic Disorder Linked to Intellectual Disability Identified"

A new study published in Nature Medicine identifies mutations in the RNU4-2 gene as a likely cause of many unexplained cases of intellectual disability. The gene, crucial for gene splicing, when mutated, can disrupt brain development, leading to intellectual disabilities. The findings could help update genetic tests and provide diagnoses for many families. The study estimates the condition affects up to 1 in 20,000 young people, though its prevalence in older adults is unknown. Researchers emphasize the significance of the discovery, though treatment options remain distant.