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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. Researchers have discovered a neurodevelopmental disorder linked to mutations in the RNU4-2 gene, a non-coding gene, which could impact tens of thousands globally.

This finding enhances our understanding of genetic factors behind such disorders and paves the way for improved diagnostics. Scientists have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide. The work, published in the May 31 online issue of Nature Medicine , was done by researchers at the Icahn School of Medicine at Mount Sinai in collaboration with colleagues at the University of Bristol , UK; KU Leuven, Belgium; and the NIHR BioResource, currently based at the University of Cambridge, UK.



The findings will improve clinical diagnostic services for patients with neurodevelopmental disorders. Importance of Genetic Analysis Through rigorous genetic analysis, the researchers discovered that mutations in a small non-coding gene called RNU4-2 cause a collection of developmental symptoms that had not previously been tied to a distinct genetic disorder. Non-coding genes are parts of DNA that do not produce prot.

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