Landmark Study Identifies New Genetic Cause of Neurodevelopmental Disorders (IMAGE)

The Mount Sinai Hospital / Mount Sinai School of Medicine

Landmark Study Identifies New Genetic Cause of Neurodevelopmental Disorders

Caption

Mutations (blue) in U2 snRNA cause a neurodevelopmental disorder about one-fifth as common as the RNU4-2/ReNU disorder, which is linked to mutations (orange) in U4 snRNA. snRNAs are shown in black, pre-mRNA in green, and gray lines show how different snRNAs interact with pre-mRNA during gene splicing.

Credit

Greene et al, Nature Genetics 2025.

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