RNU4-2 variant map uncovers two distinct neurodevelopmental disorders
Researchers used saturation genome editing to comprehensively map all possible variants in the 145‑nucleotide RNU4-2 snRNA, defining a central 18‑nucleotide region where mutations drive dominant ReNU syndrome and revealing four other regions whose depletion links to a separate recessive neurodevelopmental disorder, thereby enabling improved diagnosis and insights into underlying mechanisms and pleiotropy within this noncoding RNA.
