Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

Heterozygous de novo variants in the splicing factor SF1 cause a neurodevelopmental disorder with variable severity and autistic traits. Functional studies reveal that SF1 deficiency disrupts gene expression and splicing in neural progenitor cells, affecting key neurodevelopmental processes. These findings identify SF1 dysfunction as a spliceosomopathy causing neurodevelopmental disorders.