Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4 - PubMed
3 hours ago
- #movement disorders
- #neurogenetics
- #RNA splicing
- SRRM4 gene variants cause a neurodevelopmental disorder with dystonia and chorea in three patients.
- De novo splice-site variants (c.464+2T>C, c.464+2T>A) lead to altered SRRM4 mRNA isoforms and abnormal splicing.
- Clinical features include infantile onset of combined dystonic and choreatic syndromes or chorea-predominant disease.
- Mechanism involves mis-splicing of downstream targets like AP1S2, not simple loss-of-function, suggesting therapeutic potential.